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4th Edition
The Ross Metabolic Formula System
Nutrition Support Protocols, 4th Edition
Authors:
Phyllis B. Acosta, Dr PH, RD, LD
Steven Yannicelli, PhD, RD, LD
Manuscript Processor:
Christine K. Downs
The product information contained here, although accurate at the time of publication, is subject to change.
The most current information may be obtained by referring to product labels.
The shared experience of many clinicians has made possible the publication of the Ross Metabolic
Formula System Nutrition Support Protocols. We are particularly indebted, however, to three clinicians
listed below:
Vyoone Lewis, PhD, RD, Adjunct Professor, Pediatrics and Public Health and Tropical Medicine,
Tulane University, reviewed and made many excellent suggestions for improvement of Protocol 7,
"Nutrition Support of Infants, Children, and Adults with ß-Ketothiolase Deficiency."
Fran Rohr, MS, RD, in the Division of Clinical Genetics at The Children's Hospital, Boston, helped
prepare Protocol 9 "Nutrition Support of Infants, Children and Adults with Glutaric Aciduria Type I."
Sandy van Calcar, MS, RD, Nutritionist at the Metabolic Clinic, Biochemical Genetics Program,
University of Wisconsin helped prepare Protocol 20 for nutrition support of very long-chain-, long-chain-,
and long-chain-hydroxyacyl-CoA dehydrogenase deficiencies. She may be reached at 608/263-5981 if
you need to discuss these disorders further.
In addition, we thank the following physicians and nutritionists who reviewed and critiqued drafts of
protocols:
Ross Products Division welcomes comments for additions or changes to this manual. Please address all
suggestions and inquiries to:
Phyllis B. Acosta, Dr PH, RD or Steven Yannicelli, PhD, RD
Director, Metabolic Diseases Clinical Research Scientist
614/624-7516; 800/986-8755 614/624-7648; 800/986-8755
APPENDICES
Nutrient Composition Tables
APPENDIX 1. Fatty Acid Profile of Infant/Toddler Metabolic Medical Foods ..................................... A-2
APPENDIX 2. Fatty Acid Profile of Child/Adult Metabolic Medical Foods .......................................... A-2
APPENDIX 3. Density of Metabolic Medical Foods ........................................................................... A-3
APPENDIX 4. Nutrient Composition of Alimentum ® Protein Hydrolysate Formula With Iron............ A-4
APPENDIX 5. Nutrient Composition of Isomil ® Soy Formula With Iron............................................ A-5
APPENDIX 6. Nutrient Composition of Similac ® With Iron Infant Formula....................................... A-6
APPENDIX 7. Nutrient Composition of NeoSure® and Similac® Lactose Free ................................. A-7
APPENDIX 8. Nutrient Composition of Mature Human Milk, Skim Milk, Whole Cow's Milk, and
Whole Egg......................................................................................................... A-8
APPENDIX 9. Nutrient Composition of Polycose ® Glucose Polymers and Pedialyte ® Oral
Electrolyte Maintenance Solution....................................................................... A-9
APPENDIX 10. Nutrient Composition of Selected Vegetable Oils...................................................... A-9
APPENDIX 11. Nutrient Composition of Vi-Daylin ® Multivitamin + Iron Drops and
Pro-Phree ® Protein-Free Energy Module with Iron, Vitamins, and Minerals.... A-10
APPENDIX 12. Nutrient Composition of Very-Low-Protein Foods per 100 g.................................... A-11
Recommended Dietary Allowances (RDIs)
APPENDIX 13. Recommended Dietary Intakes (RDIs) for Minerals and Vitamins by Infants........... A-14
APPENDIX 14. Recommended Dietary Intakes (RDIs) for Minerals and Vitamins by Children,
Adolescents, and Adults................................................................................... A-15
Technical Information
APPENDIX 15. Mathematical Formula for Interconversion of Plasma Amino Acids Between
µmol/L and mg/dL ............................................................................................ A-17
APPENDIX 16. Molecular Weights of Amino Acids.......................................................................... A-17
APPENDIX 17. Selected Laboratory Standards ............................................................................... A-18
APPENDIX 18. Estimating Osmolarity of a Medical Food Mixture ................................................... A-20
APPENDIX 19. Approximate Osmolarity of Selected Foods ............................................................ A-21
APPENDIX 20. Potential Renal Solute Load of Medical Food Mixture ............................................. A-22
APPENDIX 21. NDC Numbers for Metabolic Medical Foods............................................................ A-23
Clinical Forms
APPENDIX 22. Diet Guide .............................................................................................................. A-24
APPENDIX 23. Evaluation of Mineral/Vitamin Content of Medical Food Mixture ............................. A-25
APPENDIX 24. Diet Diary................................................................................................................ A-26
APPENDIX 25. Directions for Recording the Diet Diary ................................................................... A-27
Supplier Information
APPENDIX 26. Sources of Nutrients and Drugs............................................................................... A-28
APPENDIX 27. Low-Protein Food Suppliers .................................................................................... A-29
APPENDIX 28. Products for Prescription Diet Management ............................................................ A-29
Overview
The protocols are organized according to disorder, with the Appendix containing information about
recommended nutrient intakes for various age groups, laboratory standards, and other technical
information. Also included in the Appendix are sample forms for a Diet Guide and Diet Diary, which may
be photocopied for individual use.
The newcomer to treatment of metabolic disorders will benefit from scanning the entire volume,
giving attention not only to the protocol relevant to the disorder of interest and the Appendices, but also
to the "Technical Information" section in the Appendices.
Recommended Dietary Intakes (RDIs)
Protein requirements are greater than Dietary Reference Intakes (DRIs) when L-amino acids are the
primary protein source (2). This increased need is because of rapid amino acid absorption and
subsequent oxidation (11, 16, 27), resulting in poor linear growth (7, 30), and lower than normal nitrogen
retention (27), body protein, and nitrogen content of patients fed primarily L-amino acids (3).
Recommended mineral and vitamin intakes suggested for patients with inherited metabolic
disorders are the greatest intakes suggested for each age in the 1980 and 1989 National Academy of
Sciences National Research Council (NAS-NRC) Recommended Dietary Allowances (RDAs) (10) and
the DRIs (22). Reasons for choosing the greatest intakes recommended include reports of inadequate
linear growth (7, 30) and poor bone mineralization (17) with Food and Agriculture Organization/World
Health Organization (FAO/WHO)-recommended protein intakes (9); greater than normal energy needs
when L-amino acids supply the bulk of protein equivalent (23); and depressed plasma concentrations of
ferritin (5, 25), selenium (12), and zinc (1) when RDAs were achieved with chemically defined diets.
Appropriate monitoring and disciplining of the child (18) on a special diet from an early age are essential
to diet compliance. For additional information about this topic, see references 21 and 28.
A B C D
2. A loss of feedback control. If product D normally functions in feedback control of enzyme AB,
overproduction of an intermediate product may occur because D is not present in amounts necessary to
regulate production of intermediates B and C.
3. An accumulation of C, the immediate precursor of the blocked reaction. In maple syrup urine
disease (MSUD), toxic branched-chain-α-ketoacids accumulate because they cannot be decarboxylated
and transacylated to their coenzyme A-acyl derivatives. The consequence in the neonate is severe
central nervous system depression with apnea, stupor, coma, and death. If the neonate survives, mental
retardation or death ensues if the child is not treated by diet restriction within 3 to 5 days of life.
4. An accumulation of A or B, remote precursors of the blocked reaction sequence CD. If the
preceding reactions are freely reversible, a precursor in addition to that proximal to the block will
accumulate. This process is illustrated in MSUD by increased leucine (LEU), isoleucine (ILE), and valine
(VAL), which are formed by reamination of the branched-chain-α-ketoacids — α-ketoisocaproic, α-keto-
β-methylvaleric, and α-ketoisovaleric acids, respectively.
Nine approaches to nutrition support of inborn errors of metabolism are discussed below. The
appropriate approach depends on the biochemistry and pathophysiology of disease expression —
several therapeutic approaches may be used simultaneously.
1. Enhancing anabolism and depressing catabolism. This involves the use of adequate amounts
of appropriate medical food and other foods to supply protein and energy, and administration of insulin,
2. Correcting the primary imbalance in metabolic relationships. This correction involves reducing,
through diet restriction, the accumulation of substrate that is toxic. This approach is used in PKU where
PHE, and MSUD where LEU, ILE, and VAL are limited.
5. Supplementing "conditionally essential" nutrients. Carnitine, CYS, and TYR are supplemented
in secondary liver disease, and carnitine is supplemented in organic acidemias.
6. Stabilizing altered enzyme proteins. The rate of biologic synthesis and degradation of
holoenzymes depends on their structure. In some holoenzymes, saturation by coenzyme increases their
biologic half-life and, thus, overall enzyme activity at the new equilibrium. This therapeutic mechanism
is used in HCU and MSUD. Pharmacologic intakes of pyridoxine in HCU and thiamin in MSUD increase
intracellular pyridoxal phosphate and thiamin pyrophosphate and increase the specific activity of
cystathionine ß-synthase and branched-chain-α-ketoacid dehydrogenase complex.
7. Replacing deficient cofactors. Many vitamin-dependent disorders are caused by blocks in
coenzyme production and are "cured" by pharmacologic intake of a specific vitamin precursor. This
mechanism presumably involves overcoming a partially impaired enzyme reaction by mass action.
Impairment of reactions required to produce either methylcobalamin or adenosylcobalamin result in
HCU and/or methylmalonic aciduria (MMA). Daily intakes of appropriate forms of milligram quantities of
vitamin B12 may cure the disease.
8. Inducing enzyme product. If the structural gene or enzyme is intact, but suppressor, enhancer, or
promoter elements are not functional, abnormal amounts of enzyme may be produced. The structural
gene may be "turned on" or "turned off" to enable normal enzymatic production to occur. In the acute
porphyria of tyrosinemia type Ia, excessive δ-ALA production may be reduced by suppressing
transcription of the δ-ALA synthase gene with excess glucose.
9. Supplementing nutrients that are inadequately absorbed or not released from their
apoenzyme. Examples are zinc in acrodermatitis enteropathica and biotin in biotinidase deficiency.
The Table that follows provides information, by disorder, on appropriate Ross Products or other products
to use for nutrition support of a variety of inborn errors of metabolism.
GSD Type V (muscle phosphorylase) Provide high protein. Supplement L-ALA. Maintain No ProViMin
energy intake at NAS-NRC RDAs for age. RCF
Hereditary Fructose Intolerance
Hereditary fructose intolerance (aldolase B) Restrict fructose to < 10 mg/kg of body weight; No Pro-Phree
restrict protein if liver damage. Maintain energy Similac for infants
intake at NAS-NRC RDAs for age. Cow's milk for children
© 2001 Ross Products Division
homocitrullinuria syndrome (HHH syndrome) L-ornithine (ORN). Maintain energy intake above Cyclinex-2
(defective ornithine transport across mitochondrial NAS-NRC RDAs for age.
membrane)
N-acetylglutamate synthetase deficiency Restrict protein. Supplement with EAAs, L-carnitine, No Cyclinex-1
and N-carbamylglutamate. Maintain energy Cyclinex-2
intake above NAS-NRC RDAs for age.
References
1. Acosta PB, Fernhoff PM, Warshaw HS, et al: Zinc status and growth of children undergoing treatment for
phenylketonuria. J Inher Metab Dis 1982;5:107-110.
2. Acosta PB, Yannicelli S: Protein intake affects phenylalanine requirements and growth of infants with
phenylketonuria. Acta Paediatr 1994; (Suppl):407:66-67.
3. Allen JR, Baur LA, Waters DL, et al: Body protein in prepubertal children with phenylketonuria. Eur J Clin Nutr
1996;50:178-186.
4. Amino Acid Analyzer© is available from Ross Products Division, Appendix 28, p A-29.
5. Bodley JL, Austin VJ, Hanley WB, et al: Low iron stores in infants and children with treated phenylketonuria: A
population at risk for iron-deficiency anaemia and associated cognitive deficits. Eur J Pediatr 1993;152:140-143.
6. Byrd-Bredbenner C: Computer nutrient analysis software packages: Considerations for selection. Nutr Today
1988; September-October:13.
7. Dhondt JL, Largilliere C, Moreno L, Farriaux JP: Physical growth in patients with phenylketonuria. J Inher Metab
Dis 1995;18:135-137.
8. Dietetic scales that weigh in grams are available from Pelouze Scales Co, PO Box 1058, Evanston, IL 60204. For
ordering information, see Appendix 28, p A-29.
9. FAO/WHO/UNU Expert Consultation: Energy and Protein Requirements. Geneva: World Health Organization,
1985.
10. Food and Nutrition Board, Committee on Dietary Allowances: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989.
11. Gropper S, Acosta PB: Effect of simultaneous ingestion of L-amino acids and whole protein on plasma amino
acids and urea nitrogen concentrations in humans. JPEN 1991;15:48-53.
12. Gropper S, Acosta PB, Clarke-Sheehan N, et al: Trace element status of children with PKU and normal children.
J Amer Diet Assoc 1988;88:459-464.
13. Gropper SS, Gropper DM, Acosta PB: Plasma amino acid response to ingestion of L-amino acids and whole
protein. J Pediatr Gastroenterol Nutr 1993;16:143-150.
14. Guttler F, Olseson ES, Wamberg E: Diurnal variations of serum phenylalanine in phenylketonuric children on low
phenylalanine diet. Am J Clin Nutr 1969;22:1568-1570.
15. Haworth JC, Demaugre F, Booth FA, et al: A typical features of the hepatic form of carnitine palmitoyltransferase
deficiency in a Hutterite family. J Pediatr 1992;121;553-557.
16. Herrmann ME, Broesicke HG, Keller M, et al: Dependence of the utilization of a phenylalanine free amino acid
mixture on different amounts of a single dose ingested. A case report. Eur J Pediatr 1994;153:501-503.
17. Hillman L, Schlotzhauer C, Lee D, et al: Decreased bone mineralization in children with phenylketonuria under
treatment. Eur J Pediatr 1996;155 (Suppl 1):S148-S152.
18. Howard BJ: Discipline in early childhood. Pediatr Clin North Am 1991;38:1351-1369.
19. Kelly RJ: Inborn errors of cholesterol biosynthesis. Adv Pediatr 2000;47:1-53.
20. Kindt E, Motzfeldt K, Halvorsen S, Lie S: Protein requirements in infants and children treated for phenylketonuria.
Am J Clin Nutr 1983;37:778-785.
21. Macht J: Poor Eaters: Helping Children Who Refuse to Eat. New York: Plenum Press, 1990.
22. Monsen ER: Dietary reference intakes for antioxidant nutrients: Vitamin C, vitamin E, selenium, and carotenoids.
J Amer Diet Assoc 2000;100:637-640.
23. Pratt EL, Snyderman SE, Cheung MW, et al: The threonine requirement of the normal infant. J Nutr
1955;56:231-251.
24. Preparation of Formula for Infants: Guidelines for Health Care Facilities. Chicago, IL: The American Dietetic
Association, 1991.
25. Scaglioni S, Zucotti G, Vedovello M, et al: Study of serum ferritin in 58 children with classic phenylketonuria and
persistent hyperphenylalaninemia. J Inher Metab Dis 1985;8:160.
26. Schiffman SS, et al: Increased taste thresholds of amino acids with age. Am J Clin Nutr 1979;32:1622.
27. Schoeffer A, Herrmann ME, Broesicke HG, Moench E: Effect of dosage and timing of amino acid mixtures on
nitrogen retention in patients with phenylketonuria. J Nutr Med 1994;4:415-418.
28. Taylor JF, Latta RS: Why Can't I Eat That? Saratoga, CA: R & E Publishers, 1993.
29. Touati G, Rusthoven E, Depondt E, et al: Dietary therapy in two patients with a mild form of sulphite oxidase
deficiency. Evidence for clinical and biological improvement. J Inher Metab Dis 2000;23:45-53.
30. Verkerk PH, van Spronsen FJ, Smit GPA, Sengers RCA: Impaired prenatal and postnatal growth in Dutch patients
with phenylketonuria. Arch Dis Child 1994;71:114-118.
GTP
GTP cyclohydrolase
Dihydroneopterin triphosphate
+ +
NAD NADH + H
Dietary protein
CO2 + H2O
Tissue Tyrosine (N)
Phenylalanine*
protein (N) Melanin
(N)
Epinephrine
Phenylalanine Thyroxine
O2 H2O
hydroxylase
Phenylacetylglutamine
D. Energy
1. Calculate energy provided by infant formula with iron, human milk, beikost, whole cow's milk,
or table foods (Table 1-2, p 12) and Phenex (Table 1-4, p 27) required to fill PHE and protein
prescriptions.
2. Subtract amount determined above from total energy prescription.
3. Provide remaining prescribed energy with Polycose ® Glucose Polymers powder
(23 kcal/Tbsp, 3.8 kcal/g) or liquid (2 kcal/mL) (Appendix 9, p A-9); Pro-Phree ® Protein-Free
Energy Module With Iron, Vitamins & Minerals (Appendix 11, p A-10); sugar (48 kcal/Tbsp); or
Free Foods B (Table 1-2, p 12), depending on age of patient.
a. Do not use corn syrup or table sugar for infants because of osmolarity they yield (45).
b. Do not use honey for infants because it may contain botulinum toxin (67).
E. Fluid and Mixing Instructions
1. Add sufficient boiled, cooled water to infant formula or human milk, Phenex, carbohydrate,
and L-TYR (if needed) to yield prescribed volume. Tap water may replace boiled, cooled
water when preparing Phenex for older infants, children, and adults.
2. Mix with sterilized blender at lowest speed for no longer than 3 to 4 seconds. Excess mixing
may destabilize emulsion. Medical food may also be mixed in sterilized, tightly closed
container by shaking vigorously for 10 to 12 seconds.
3. Refrigerate in sterilized, closed containers until used. Discard unused portion 24 hours after
mixing because of nutrient loss. Store unopened cans at room temperature. Cover opened
can and store in refrigerator. Use within 1 month after opening.
4. Do not use terminal sterilization or boil because of Maillard reaction (Practical Aspects of
Nutrition Support, p viii).
5. Warm or cool medical food mixture to room temperature before feeding to infants. Shake well
before feeding.
6. Do not warm medical food mixture in microwave oven. Unevenly heated formula can burn
infants and steam can make bottles explode.
7. Notify parents or caretakers when they may discontinue using aseptic technique in preparing
medical food mixture for infants.
8. For children and adults, chill Phenex medical food mixture to improve taste.
F. Diet Guide
1. Provide parents, caretakers, or patient with completed Diet Guide (Appendix 22, p A-24) with
each diet change.
2. Feed young infants 6 to 8 times daily (35, 55).
3. Feed older infants, children, and adults 4 to 6 times daily (35, 55).
C. Iron Status
1. Plasma ferritin concentration (13-15).
a. Evaluate at 6, 9, and 12 months of age and every 6 months thereafter (Appendix 17,
p A-18, for standards).
b. If plasma ferritin concentration is below standard:
1) Increase iron intake to 4 mg/kg with supplements (ferrous sulfate).
2) Evaluate plasma ferritin concentration monthly on increased iron intake.
3) Continue iron supplements until plasma ferritin concentration is in normal range.
2. Complete blood count.
a. Hemoglobin and hematocrit concentrations should be evaluated at 6, 9, and 12 months of
age and every 6 months thereafter (Appendix 17, p A-18, for standards).
D. Serum/Erythrocyte Vitamin B12 and Folate
1. Patients who routinely fail to ingest prescribed amounts of medical food are at risk of
vitamin B12 and folate deficiencies (32).
2. Serum or erythrocyte vitamin B12 and folate should be routinely analyzed if medical food
prescribed is not ingested.
3. Serum and erythrocyte concentrations should be maintained between the following values:
Tissue Vitamin B12 (74) Folate (34)
Serum > 300 pg/mL > 5 to < 10 ng/mL
Erythrocyte --- > 200 to < 300 ng/mL
4. Both vitamin B12 and folate tablets should be administered daily if the patient will not ingest
prescribed amounts of medical food.
E. Growth Status
1. Length/height and weight.
a. Measure monthly to 1 year, every 3 months to 4 years, and every 6 months thereafter.
Plot measurements on NCHS growth charts.
b. Maintain length/height and weight between 10th and 90th percentiles. Some normal
infants, children, and adults will fall above or below these percentiles.
2. If length/height or weight falls below usual growth channel:
a. Increase prescribed protein and energy by 5% to 10% and remeasure in 1 month.
b. If length/height or weight remains low, repeat above process until usual growth channel is
achieved.
3. For previously untreated adult with PKU, weigh weekly after diet is initiated until weight is
stabilized at appropriate weight for height, then weigh monthly.
a. Liberal use of very-low-protein foods, Free Foods A (p 24), and Free Foods B (p 25) will
help minimize weight loss.
F. Nutrient Intake
1. Maintain records of food intake for 3 days immediately before each blood test (Appendices 24
and 25, pp A-26 and A-27).
B. Example 2
Establish and fill prescription for 2-year-old child weighing 13 kg using Recommended Daily
Nutrient Intakes from Table 1-1, p 12, and Average nutrient contents from Tables 1-2 and 1-4,
pp 12 and 27.
1. Establish prescription.
PHE 200 mg/day
TYR 3,000 mg
Protein 30 g
Energy 1,300 kcal
Fluid 1,375 mL
C. Example 3
Establish and fill prescription for 6-year-old child using Recommended Daily Nutrient Intakes from
Table 1-1, p 12, and average nutrient contents from Tables 1-2 and 1-4, pp 12 and 27.
1. Establish prescription.
PHE 235 mg/day
TYR 3,500 mg
Protein 35.0 g
Energy 1,700 kcal
Fluid 1,700 mL
2. Fill prescription.
Medical Food Measure PHE TYR Protein Energy
Mixture (mg) (mg) (g) (kcal)
Phenex-2 97 g 0 2,910 29.1 398
L-Tyrosine 430 mg 0 430 0.0 0
Sugar 84 g (7 Tbsp) 0 0 0.0 336
Add water to make 946 mL (32 fl oz). Offer additional fluid ad libitum daily.
D. Example 4
Establish and fill prescription for 20-year-old woman using Recommended Daily Nutrient Intakes
from Table 1-1, p 12, and average nutrient contents from Tables 1-2 and 1-4, pp 12 and 27.
1. Establish prescription.
PHE 220 mg/day
TYR 5,000 mg
Protein 50 g
Energy 2,100 kcal
Fluid 2,100 mL
Age Nutrient
1-3 1
PHE TYR Protein4 Energy4 Fluid5
(mg/kg) (mg/kg) (g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 25 - 70 300 - 350 3.50 - 3.00 120 (145 - 95) 160 - 135
3 to < 6 mo 20 - 45 300 - 350 3.50 - 3.00 120 (145 - 95) 160 - 130
6 to < 9 mo 15 - 35 250 - 300 3.00 - 2.50 110 (135 - 80) 145 - 125
9 to < 12 mo 10 - 35 250 - 300 3.00 - 2.50 105 (135 - 80) 135 - 120
(mg/day) (g/day) (g/day) (kcal/day) (mL/day)
Girls and Boys
1 to < 4 yr 200 - 400 1.72 - 3.00 ≥ 30 1,300 ( 900 - 1800) 900 - 1,800
4 to < 7 yr 210 - 450 2.25 - 3.50 ≥ 35 1,700 (1300 - 2300) 1,300 - 2,300
7 to < 11 yr 220 - 500 2.55 - 4.00 ≥ 40 2,400 (1650 - 3300) 1,650 - 3,300
Women
11 to < 15 yr 250 - 750 3.45 - 5.00 ≥ 50 2,200 (1500 - 3000) 1,500 - 3,000
15 to < 19 yr 230 - 700 3.45 - 5.00 ≥ 55 2,100 (1200 - 3000) 1,200 - 3,000
≥ 19 yr 220 - 700 3.75 - 5.00 ≥ 60 2,100 (1400 - 2500) 2,100 - 2,500
Men
11 to < 15 yr 225 - 900 3.38 - 5.50 ≥ 55 2,700 (2000 - 3700) 2,000 - 3,700
15 to < 19 yr 295 - 1,100 4.42 - 6.50 ≥ 65 2,800 (2100 - 3900) 2,100 - 3,900
≥ 19 yr 290 - 1,200 4.35 - 6.50 ≥ 70 2,900 (2000 - 3300) 2,000 - 3,300
1
See Section VII, Establish Prescription, p 3, for initial dietary PHE to prescribe based on diagnostic plasma PHE.
Modify prescription based on frequently obtained blood and/or plasma values and growth in infants and children and
frequently obtained plasma values and weight maintenance in adults.
2
PHE requirements of premature infants may be greater than highest value noted (59).
3
Modified from references 1, 3-5, 19, 43.
4
Modified from reference 22.
5
Modified from reference 13. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL to
children and adults for each kcal ingested.
TABLE 1-2. Serving Lists for PHE-Restricted Diets: Average Nutrient Content per Serving1
Cereals, Dry
Barley 4 1 Tbsp + 1/4 tsp 28 15 0.5 15
Mixed 6 1 Tbsp + 2 tsp 30 15 0.6 23
Oatmeal 3 3/4 Tbsp 27 14 0.4 12
Oatmeal/banana 4 1 Tbsp + 1/4 tsp 27 17 0.4 16
Oatmeal/mixed fruit 6 1 Tbsp + 2 tsp 32 17 0.6 25
Rice 6 1 Tbsp + 2 tsp 28 16 0.5 23
Rice/apples 11 3 Tbsp 30 21 0.6 43
Rice/apple bits 8 2 Tbsp + 1/2 tsp 29 15 0.6 32
Rice/bananas 9 2 Tbsp + 1-1/2 tsp 30 19 0.6 35
Rice/mixed fruit 9 2 Tbsp + 1-1/2 tsp 31 23 0.6 35
Cereals, Jarred
1st Foods ®
Oatmeal 34 2 Tbsp + 1 tsp 30 20 0.6 19
2nd Foods ®
Mixed/applesauce/bananas 57 1/4 cup 30 15 0.6 49
Oatmeal/applesauce/bananas 42 3 Tbsp 30 13 0.5 35
Rice/applesauce 57 1/4 cup 30 15 0.4 52
3rd Foods ®
Mixed/apples/bananas 54 3 Tbsp + 2 tsp 30 16 0.6 41
Oatmeal/apples/cinnamon 53 3 Tbsp + 2 tsp 30 16 0.6 36
Tender Harvest ™
Greenbeans/potatoes 26 ND 30 23 0.6 16
Spring garden vegetables 60 ND 30 18 0.9 21
Vegetables
1st Foods ®
Peas 24 1 Tbsp + 2 tsp 30 19 0.7 12
Potatoes 75 5 Tbsp + 1 tsp 30 25 0.8 35
Sweet potatoes 45 3 Tbsp 30 12 0.5 29
2nd Foods ®
Creamed corn 31 2 Tbsp 30 20 0.6 19
Creamed spinach 20 1 Tbsp + 1-1/2 tsp 30 23 0.6 9
Garden vegetables 30 2 Tbsp 30 18 0.4 11
Peas 24 1 Tbsp + 2 tsp 30 19 0.7 12
Sweet potatoes 48 3 Tbsp + 1 tsp 30 12 0.5 30
3rd Foods ®
Peas/rice 23 1 Tbsp + 2 tsp 30 15 0.2 12
Sweet potatoes 48 3 Tbsp + 1 tsp 30 15 0.5 29
FRUITS/JUICES
Fruit/Vegetable Juices
Apple/carrot 214 6-3/4 fl oz 15 11 0.2 89
Apple/sweet potato 125 4 fl oz 15 9 0.4 62
Tender Harvest™
Apple/sweet potato 125 ND 15 8 0.3 72
Banana/oatmeal/peach 27 ND 15 6 0.3 20
Pear/wild blueberry 100 ND 15 5 0.4 61
Pears/winter squash 25 ND 15 6 0.3 13
Tropical fruit blend 68 ND 15 7 0.4 50
VEGETABLES
1st Foods ®
Carrots 75 5 Tbsp + 1 tsp 15 10 0.7 26
Green beans 23 1 Tbsp + 2 tsp 15 9 0.4 9
Squash 50 3 Tbsp + 1-1/2 tsp 15 14 0.4 17
2nd Foods ®
Carrots 75 5 Tbsp + 1 tsp 15 10 0.6 22
Green beans 31 2 Tbsp 15 11 0.4 10
Mixed vegetables 27 1 Tbsp + 2 tsp 15 11 0.3 11
Squash 33 2 Tbsp + 1 tsp 15 7 0.2 10
3rd Foods ®
Carrots 65 4 Tbsp + 1-1/2 tsp 15 10 0.5 19
Green beans/rice 28 2 Tbsp 15 11 0.3 12
Squash 71 1/3 cup 15 11 0.6 23
Tender Harvest™
Butternut squash/corn 25 ND 15 10 0.5 12
Garden carrots/brown rice 47 ND 15 9 0.4 20
FREE FOODS A
Beverages, Graduates ®
Berry punch 218 7 fl oz 5 5 0.2 111
Fruit punch 218 7 fl oz 5 5 0.2 113
Tender Harvest™
Apple/mango/kiwi 100 7 Tbsp 5 3 0.1 60
Apple/strawberry 100 7 Tbsp 5 3 0.1 60
1
Prepared from 1998 and 1999 data from Gerber Products Co, Fremont, MI 49413.
ND = No data.
Grains
Corn
cob (medium ear) 21 1/3 ear 30 25 0.6 19
cooked
cream style 32 2 Tbsp 26 21 0.6 23
whole kernel 20 2 Tbsp 32 26 0.7 22
Rice, prepared
brown, 25 2 Tbsp 32 24 0.6 27
cakes 9 1 cake 34 45 0.8 35
fried 23 1 Tbsp + 2 tsp 30 23 0.7 30
pilaf 15 1 Tbsp 30 20 0.6 23
Rice-A-Roni ® 21 1 Tbsp + 1 tsp 28 20 0.7 27
Spanish 30 2 Tbsp 26 21 0.5 26
Pasta, cooked
Macaroni 12 1 Tbsp + 1-1/2 tsp 31 18 0.6 18
Noodles 13 1 Tbsp + 1 tsp 26 14 0.5 17
Ramen ® Noodles 10 1 Tbsp 25 15 0.6 22
Spaghetti 19 2 Tbsp 33 17 0.6 21
Tubers
Potatoes, sweet
baked, w/ skin, mashed 25 2 Tbsp 26 18 0.4 26
boiled, no skin, mashed 31 1 Tbsp + 1-1/2 tsp 30 21 0.5 32
canned, packed in syrup 49 1/4 cup 26 18 0.4 67
Potatoes, white
baked, no skin 30 1/4 cup 31 26 0.7 33
boiled
no skin 39 1/4 cup 30 25 0.7 34
w/ skin 40 1/4 cup 32 28 0.8 34
canned 45 1/4 cup 28 24 0.3 27
French fries (1/2" x 1/2" x 2") 20 4 fries 32 19 0.7 64
hash browns, frozen/cooked 20 2 Tbsp 26 15 0.6 43
microwaved, w/ skin 29 3 Tbsp 27 23 0.6 29
pan fried 29 3 Tbsp 30 18 0.7 61
Tater Tots ® 37 4 pieces 33 19 0.8 61
Yams, baked or boiled 42 1/3 cup 29 17 0.6 49
Miscellaneous
Chocolate sauce (Hershey's ®) 20 1 Tbsp 25 18 0.5 49
Chow mein noodles 7 2 Tbsp 35 21 0.8 38
Flour, cake 8 1 Tbsp + 1 tsp 31 19 0.6 30
Jell-O ®, w/ sugar 80 1/3 cup 30 3 0.6 65
Snack Foods
Barnum's Animal Crackers ® 10 4 crackers 34 21 0.7 45
Cookies
fig bar 16 1 cookie 33 21 0.6 57
Ho Ho's ® 14 1/2 Ho Ho 27 17 0.6 60
Oreo ® 11 1 cookie 24 15 0.5 53
Social Tea Biscuit ® 11 2 biscuits 28 17 0.6 48
Sugar Wafer (Nabisco ®) 17 3 wafers 30 18 0.7 80
vanilla wafer 12 3 wafers 32 19 0.6 55
Crackers
Goldfish ®, original 9 15 crackers 29 19 0.6 44
graham cracker (2" x 2") 7 1 cracker 28 17 0.6 27
Ritz ® 10 3 crackers 32 19 0.7 50
Ritz Bits ® (cheese) 6 8 crackers 28 18 0.5 28
Rye Thins ® 8 3 crackers 27 12 0.6 39
Rykrisp ® 6 1 cracker 30 21 0.6 23
saltine 6 2 crackers 27 16 0.5 26
soda 7 1 cracker 35 19 0.7 30
Waverly ® 7 1 cracker 24 15 0.5 35
Wheat Thins ® 9 5 crackers 31 19 0.7 43
Doodads ® 7 2 Tbsp 34 22 0.8 35
FATS
FRUITS
Fruits are raw unless otherwise noted. Weight of raw fruits is only for parts that can be eaten. Drain canned, cooked, and frozen fruits before
measuring or weighing. Do not use any fruits that contain NutraSweet®, SweetMate®, or aspartame.
Apricots
canned, heavy syrup 64 1/4 cup 14 8 0.3 54
dried, halves 11 3 16 9 0.4 25
frozen, sweetened 60 1/4 cup 16 9 0.4 60
nectar, canned 94 3 fl oz 15 9 0.3 53
whole 35 1 fruit 18 10 0.5 17
Avocados, all varieties, mashed 23 1 Tbsp + 2 tsp 17 12 0.5 38
Bananas, sliced 42 3 Tbsp 16 10 0.4 39
VEGETABLES
Vegetables are raw unless otherwise noted. Weight of raw vegetables is only for parts that can be eaten. Drain canned and cooked
vegetables before measuring or weighing.
Asparagus
canned
green 30 2 Tbsp or 2 spears 15 9 0.6 6
white 38 2 spears 19 13 0.6 7
fresh or frozen, cooked 22 1-1/2 spears 16 10 0.6 6
raw 21 1-1/2 spears 16 10 0.7 7
Bamboo shoots, canned, sliced 25 3 Tbsp 15 12 0.4 5
Beans,
snap, green
canned 34 1/4 cup 14 9 0.4 7
fresh, cooked 16 2 Tbsp 14 9 0.4 7
frozen, cooked 34 1/4 cup 17 11 0.5 9
sprouts
mung (seed attached to sprout)
cooked 16 2 Tbsp 14 6 0.3 3
raw 13 2 Tbsp 15 7 0.4 4
soy
cooked 8 1 Tbsp 13 12 0.4 3
raw 6 1 Tbsp 12 11 0.4 3
yellow wax
canned 34 1/4 cup 14 9 0.4 7
Soups, Campbell's ® Condensed. Weigh or measure before diluting and dilute with water only.
Asparagus, Cream of 21 1 Tbsp + 1 tsp 16 12 0.4 15
Celery, Cream of 31 2 Tbsp 20 14 0.4 22
Chicken Gumbo 21 1 Tbsp + 1 tsp 16 12 0.4 9
Chicken Vegetable 16 1 Tbsp 17 12 0.5 9
Mushroom, Cream of 20 1 Tbsp + 1 tsp 16 12 0.4 20
Onion 20 1 Tbsp + 1 tsp 16 15 0.7 9
Potato, Cream of 24 1 Tbsp + 1-1/2 tsp 15 12 0.3 14
Tomato 32 2 Tbsp 18 11 0.5 21
Tomato Bisque 26 1 Tbsp + 2 tsp 16 12 0.5 25
Tomato Rice 32 2 Tbsp 18 11 0.5 30
Vegetable, Old Fashioned 15 1 Tbsp 13 6 0.3 9
Vegetarian, Vegetable 15 1 Tbsp 13 6 0.3 9
FREE FOODS A
Limit to prescribed number of servings. Do not use beverages or foods that contain NutraSweet ®, SweetMate ®, or aspartame.
Desserts
Butterscotch chips 5 5 pieces 5 5 0.1 15
Gelatin pop 22 1/2 pop 5 1 0.3 16
Marmalade 19 1 Tbsp 3 2 0.1 50
Marshmallow 8 1 large 4 1 0.2 26
M&M ® candy, plain 2 2 pieces 6 4 0.2 8
Mocha Mix, frozen
chocolate 8 1 Tbsp 7 5 0.2 17
vanilla 8 1 Tbsp 5 4 0.1 17
Raisins, chocolate covered 2 2 raisins 6 6 0.2 12
Sorbet
peach 30 2 Tbsp 4 4 0.1 30
pineapple 59 1/4 cup 7 7 0.2 58
strawberry 59 1/4 cup 7 8 0.2 58
Fruits/Fruit Products
Apple
butter 40 2 Tbsp 4 3 0.2 74
canned, sweetened, sliced 102 1/2 cup 5 3 0.2 68
chips (Nature's Favorite ®) 15 1/4 cup 6 4 0.2 60
dried 21 1/4 cup 6 4 0.2 52
dried, cooked 64 1/4 cup 4 3 0.1 36
juice, frozen, diluted 120 2 fl oz 4 3 0.2 56
sauce, sweetened, canned 128 1/2 cup 6 4 0.2 97
whole, small 100 1 fruit 5 4 0.2 59
Cranberry sauce, canned 69 1/4 cup 5 1 0.1 104
Fruit bars, frozen
orange 37 1/2 bar 5 2 0.1 35
pineapple 37 1/2 bar 4 4 0.1 35
strawberry 74 1 bar 6 7 0.2 60
Fruit ice 48 1/4 cup 6 3 0.2 62
Miscellaneous
Barbecue sauce 16 1 Tbsp 6 4 0.3 12
Chocolate
drink powder 3 1 tsp 4 3 0.1 11
pudding mix 7 2 tsp 6 4 0.1 23
syrup 6 1 tsp 5 4 0.1 14
Coconut, dried, sweetened w/ sugar 3 2 tsp 5 3 0.1 15
Coffee, instant, powder 2 1 tsp 5 3 0.2 4
Horseradish 2 2 tsp 4 4 0.1 2
FREE FOODS B
These foods contain little or no PHE or TYR. They may be used as desired if patient is not overweight and they do not depress appetite for
prescribed foods. Do not use beverages or foods that contain NutraSweet ®, SweetMate ®, or aspartame.
Beverages
Apple juice, canned 124 4 fl oz 2 2 0.1 60
Beer, regular 28 1 fl oz 2 4 0.1 12
Carbonated beverages, caffeine-free 113 4 fl oz 0 0 0.0 52
Cranberry juice cocktail 126 4 fl oz 1 1 0.0 72
Exceed ® Energy Drink 124 4 fl oz 0 0 0.0 35
Gatorade ® 125 4 fl oz 0 0 0.0 25
Kool-Aid ®, sweetened w/ sugar 125 4 fl oz 0 0 0.0 48
Liquor 28 1 fl oz 0 0 0.0 70
Limeade, sweetened w/ sugar 125 4 fl oz 0 0 0.0 51
Tang ® 125 4 fl oz 0 0 0.0 59
Tea, instant, powder 1 1 Tbsp 1 1 0.1 3
Wine 28 1 fl oz 1 1 0.1 21
Desserts/Sweeteners 1
Candies
Candy corn 16 10 pieces 0 0 0.0 58
Gumdrops 4 2 pieces 0 0 0.0 14
Hard candy 10 2 pieces 0 0 0.0 39
Jelly beans 28 10 pieces 0 0 0.0 103
Lollipop 28 1 medium 0 0 0.0 108
Frosting, strawberry and vanilla 16 1 Tbsp 0 0 0.0 69
Honey 21 1 Tbsp 3 2 0.1 64
Lemon pudding, canned (Hunt's ®) 121 1 can 0 0 0.0 151
Molasses 21 1 Tbsp 0 0 0.0 48
Popsicle ®, twin 128 1 popsicle 0 0 0.0 95
Sugar
brown 14 1 Tbsp 0 0 0.0 52
powdered 8 1 Tbsp 0 0 0.0 31
table 12 1 Tbsp 0 0 0.0 48
Fruits/Fruit Products
Fruit butters 7 1 tsp 1 1 < 0.1 13
Fruit ices 1/2 cup 0 0 trace 69
Fruit juice bar 52 1 bar 2 1 0.1 43
Fun Fruits ® 26 1 piece 2 1 0.1 100
Guava
raw 90 1 fruit 2 9 0.7 45
sauce 119 1/2 cup 1 5 0.4 43
Jams 7 1 tsp 1 1 < 0.1 18
Jellies 20 1 Tbsp 0 0 0.0 50
Miscellaneous
Cornstarch 8 1 Tbsp 0 0 trace 29
Lard 13 1 Tbsp 0 0 0.0 115
Oil, vegetable 14 1 Tbsp 0 0 0.0 120
Richwhip ®, liquid 14 1 Tbsp 0 0 0.0 40
Shortening 13 1 Tbsp 0 0 0.0 113
Tapioca, dry 10 1 Tbsp 1 1 0.1 36
Vinegar/oil dressing 16 1 Tbsp 0 0 0.0 70
Wheat starch 8 1 Tbsp 1 1 trace 25
For nutrient composition of very-low-protein foods, see Appendix 12, p A-11.
1/3 cup = 35 g 41 g 40 g
1/2 cup = 53 g 61 g 59 g
1 cup = 105 g 117 g 116 g
4
Analytical data at manufacture = 4.32 g/100 g powder.
5
Analytical data at manufacture = 2.66 g/100 g powder in flavored.
6
Analytical data at manufacture = 0.40 g/100 g powder.
7
Analytical data at manufacture = 0.28 g/100 g powder in unflavored, 0.27 g/100 g powder in flavored.
© 2001 Ross Products Division
TABLE 1-5. PKU Clinical Summary Sheet
1
Indicate if mg/dL or µmol/L.
REFERENCES
1. Acosta PB: The contribution of therapy of inherited amino acid disorders to knowledge of amino requirements. In
Wapnir RA (ed): Congenital Metabolic Diseases: Diagnosis and Treatment. New York: Marcel Dekker Inc, 1985,
(review), pp 115-135.
2. Acosta PB, Fernhoff PM, Warshaw HS, et al: Zinc status and growth of children undergoing treatment for
phenylketonuria. J Inher Metab Dis 1982;5:107-110.
3. Acosta PB, Trahms C, Wellman NS, Williamson MW: Phenylalanine intakes of one to six year old children
undergoing therapy for PKU. Am J Clin Nutr 1983;38:694-700.
4. Acosta PB, Wenz E, Williamson M: Nutrient intakes of treated infants with phenylketonuria. Am J Clin Nutr
1977;30:198-208.
5. Acosta PB, Yannicelli S: Protein intake affects phenylalanine requirements and growth of infants with
phenylketonuria. Acta Paediatr 1994;407 (Suppl):66-67.
6. Acosta PB,Yannicelli S: Plasma micronutrient concentrations in infants undergoing therapy for phenylketonuria.
Biol Tr Elem Res 1999;67:75-84.
7. Acosta PB, Yannicelli S, Marriage B, et al: Nutrient intake and growth of infants with phenylketonuria undergoing
therapy. J Pediatr Gastroent Nutr 1998;27:287-291.
8. Acosta PB, Yannicelli S, Marriage B, et al: Protein status of infants with phenylketonuria undergoing nutrition
management. J Am Col Nutr 1999;18:102-107.
9. Allen JR, McCauley JC, Waters DL, et al: Fasting energy expenditure in children with phenylketonuria. Am J Clin
Nutr 1995;62:797-801.
10. Anderson VE, Siegel FS: Behavioral and biochemical correlates of diet change in phenylketonuria. Pediatr Res
1976;10:10-17.
11. Arnold GL, Vladutiu CJ, Kirby RS: Protein insufficiency and impaired growth in children with PKU. J Inher Metab
Dis 2000;23 (Suppl 1):29A.
12. Azen CG, Koch R, Friedman EG, et al: Intellectual development in 12-year-old children treated for
phenylketonuria. Am J Dis Child 1991;145:35-39.
13. Behrman RE, Kleigman RM, Arvin AA (eds): Nelson Textbook of Pediatrics, ed 15. Philadelphia: WB Saunders Co,
1996.
14. Bodley JL, Austin VJ, Hanley WB, et al: Low iron stores in infants and children with treated phenylketonuria: A
population at risk for iron-deficiency anaemia and associated cognitive defects. Eur J Pediatr 1993;152:140-143.
15. Bohles H, Ullrich K, Endres W, et al: Inadequate iron availability as a possible cause of low serum carnitine
concentrations in patients with phenylketonuria. Eur J Pediatr 1991;150:425-428.
16. Calomme MR, Vanderpas JB, Francois B, et al: Thyroid function parameters during a selenium repletion/depletion
study in phenylketonuric subjects. Experientia 1995;51:1208-1215.
17. Carson DJ, Greeves LG, Sweeney LE, Crone MD: Osteopenia and phenylketonuria. Pediatr Radiol
1990;20:598-599.
18. Doherty LB, Rohr R, Levy HL: Detection of phenylketonuria in the very early newborn blood specimen. Pediatrics
1991;87:240-244.
19. Elsas LJ, Acosta PB: Nutrition support of inherited metabolic diseases. In Shils ME, et al (eds): Modern Nutrition in
Health and Disease, ed 9. Baltimore: Williams & Wilkins, 1999, pp 1003-1056.
20. Epstein CM, Trotter JF, Averbook A, et al: EEG mean frequencies are sensitive indices of phenylalanine effects on
normal brain. Electroencephalog Clin Neurophys 1989;72:133-139.
21. Fisch RO, Gravem HJ, Feinberg SB: Growth and bone characteristics of phenylketonurics: Comparative analysis
of treated and untreated phenylketonuric children. Am J Dis Child 1966;112:3-10.
22. Food and Nutrition Board, Committee on Dietary Allowances: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989.
23. Greeves LG, Carson DJ, Craig BG, McMaster D: Potentially life-threatening cardiac dysrhythmia in a child with
selenium deficiency and phenylketonuria. Acta Paediatr Scand 1990;79:1259-1262.
24. Greeves LG, Patterson CC, Carson DJ, et al: Effect of genotype on changes in intelligence quotient after dietary
relaxation in phenylketonuria and hyperphenylalaninaemia. Arch Dis Child 2000;82:216-221.
25. Griffiths PV, Demellweek C, Fay N, et al: Wechsler subscale IQ and subtest profile in early treated
phenylketonuria. Arch Dis Child 2000;82:209-215.
26. Gropper S, Acosta PB: Effect of simultaneous ingestion of L-amino acids and whole protein on plasma amino acid
and urea nitrogen concentrations in humans. JPEN 1991;15:48-53.
27. Gropper SS, Gropper DM, Acosta PB: Plasma amino acid response to ingestion of L-amino acids and whole
protein. J Pediatr Gastroent Nutr 1993;16:143-150.
28. Gropper SS, Trahms C, Cloud HA, et al: Iron deficiency without anemia in children with phenylketonuria. Int'l
Pediatr 1994;9:237-243.
29. Gropper SS, Yannicelli S: Plasma molybdenum concentrations in children with and without phenylketonuria. Biol
Trace Elem Res 1993;38:227-231.
X. Sample Prescriptions
A. Example 1
Establish and fill prescription for pregnant 24-year-old woman who is 167.6 cm tall and weighs
56 kg (normal weight) at beginning of pregnancy and 63.3 kg at 27 weeks' gestation using
Recommended Daily Nutrient Intakes from Table 2-2, p 41, and average nutrient contents from
Tables 2-3 and 2-5, pp 42 and 43.
1. Establish prescription for 1st trimester.
PHE 200 mg/day
TYR 7,000 mg (7.0 g)
Protein 70 g
Energy 2,500 kcal
Fluid 2,500 mL
2. Fill prescription for 1st trimester.
Medical Food Mixture Measure PHE TYR Protein Energy
(mg) (mg) (g) (kcal)
Phenex-2 217 g 0 6,510 65.1 890
L-TYR 352 mg 0 352 0.0 0
Add water to make 1183 mL (40 fl oz). Additional fluid should be consumed ad libitum daily.
TABLE 2-2. Recommended Daily Nutrient Intakes (Ranges) for Pregnant Women With PKU
2nd Trimester
15 to < 19 200 - 900 5.75 - 7.50 ≥ 75 2,500 (2000 - 3500) 2,000 - 3,500
≥ 19 200 - 900 4.50 - 7.00 ≥ 70 2,500 (2000 - 3000) 2,000 - 3,000
3rd Trimester
15 to < 19 300 - 1200 5.75 - 7.50 ≥ 75 2,500 (2000 - 3500) 2,000 - 3,500
≥ 19 300 - 1200 4.50 - 7.00 ≥ 70 2,500 (2000 - 3000) 2,000 - 3,000
1
Initiate prescription with lowest value for age and trimester. Actual requirement may vary considerably. Modify
prescription based on frequently obtained plasma values and maternal weight gain.
2
From references 1, 2, 26, 30, 32, 33.
3
Modified from reference 13.
4
For 15- to < 19-year-old, energy intake should never be < 45 kcal/kg of ideal pregnancy weight. For women
≥ 19 years of age, energy intake should never be < 35 kcal/kg of ideal pregnancy weight (35). Adequate energy to
support recommended weight gain (Section V, Establish Goals of Nutrition Support, p 34) should be prescribed even
if number is greater than highest number listed for trimester and age.
5
Under normal circumstances, offer minimum of 1 mL fluid for each kcal ingested (5).
CHEESE
American, processed 28 1 slice 319 344 6.3 106
Blue (3/4" x 1" x 1") 28 1 piece 308 367 6.1 100
Camembert 28 1 slice 313 325 5.6 85
Cheddar 28 1 slice 372 341 7.1 114
Colby 28 1 slice 355 325 6.7 112
Cottage, creamed 56 1/4 cup 378 374 7.0 58
Gouda 28 1 slice 406 412 7.0 101
Monterey Jack 28 1 slice 365 335 6.9 106
Mozzarella, low-moisture, part skim 28 1 slice 407 450 7.8 79
Muenster 28 1 slice 352 318 6.6 104
Parmesan, grated 16 3 Tbsp 336 348 6.2 68
Provolone 28 1 slice 365 431 7.2 100
Swiss 28 1 slice 471 480 8.1 106
Mean 365 337 6.8 95
LUNCH
Medical Food Mixture, fl oz
Breads/Cereals
Fats
Fruits
Vegetables
Cheese/Eggs/Regular Bread
Free Foods A
Free Foods B
MIDAFTERNOON SNACK
DINNER
Medical Food Mixture, fl oz
Breads/Cereals
Fats
Fruits
Vegetables
Cheese/Eggs/Regular Bread
Free Foods A
Free Foods B
BEDTIME SNACK
DAILY TOTAL
Comments:
_____________________________________________
Nutritionist
© 2001 Ross Products Division Maternal Phenylketonuria 45
TABLE 2-7. Recommended Dietary Intakes (RDIs) for Pregnant Women1
Vitamins
A, µg RE 1,000 1,000
D, µg 5 5
E, mg α-TE 15 15
K, µg 65 65
Ascorbic acid, mg 80 85
Biotin, µg 30 30
B6, mg 2.6 2.6
B12, µg 4 4
Folate, µg 800 800
Niacin equiv3, mg 18 18
Pantothenic acid, mg 6.0 6.0
Riboflavin, mg 1.6 1.6
Thiamin, mg 1.5 1.5
1
Modified from references 13, 50.
2
From reference 3.
3
From reference 28.
Date of Birth: __________/__________/__________ Age: _______(yrs) Usual Prepregnancy Weight: __________ kg Height:________ (cm)
Mo Day Year
Wks Preconception: _________________ Wks Gestation: _________________ When Diet Initiated: _________________
1
2
Indicate if RBC or serum and method.
Indicate if mg/dL or µmol/L.
REFERENCES
1. Acosta PB: Nutrition support of maternal PKU. Sem Perinat 1995;19;182-190.
2. Acosta PB, Michals-Matalon K, Austin V, et al: Nutrition findings and requirements in pregnant women with
phenylketonuria. In Platt L (ed): Effects of Genetic Disorders on Pregnancy Outcome. London: Parthenon Publ,
1997, pp 21-32.
3. Acosta PB, Stepnick-Gropper S, Clarke-Sheehan N, et al: Trace element status of PKU children ingesting an
elemental diet. JPEN 1987;11:287.
4. Arnold GL, Vladutiu CJ, Kirby RS: Protein insufficiency and impaired growth in children with PKU. J Inher Metab
Dis 2000;23 (Suppl 1):29A.
5. Behrman RE, Kliegman RM, Arvin AA (eds): Nelson Textbook of Pediatrics, ed 15. Philadelphia: WB Saunders Co,
1996.
6. Calomme MR, Vanderpas JB, Francois B, et al: Thyroid function parameters during a selenium repletion/depletion
study. Experientia 1995;51:1208-1215.
7. Castiglioni LL, Rouse BM: The Young Woman With PKU. Galveston, Texas: University of Texas, 1986.
8. Committee on Nutrition of the Mother and Preschool Child, Food and Nutrition Board, National Research Council:
Laboratory Indices of Nutritional Status in Pregnancy. Washington, DC: National Academy of Sciences, 1978.
9. Danks DM, Cotton RGH: Future developments in phenylketonuria. In Tada T, et al (eds): Recent Advances in
Inborn Errors of Metabolism. New York: S Karger, 1987.
10. Elsas LJ, Acosta PB: Nutrition support of inherited metabolic diseases. In Shils ME, et al (eds): Modern Nutrition in
Health and Disease, ed 9. Baltimore: Williams & Wilkins, 1999, pp 1003-1056.
11. Farquhar DL, Steven F, Westwood A: Preliminary report on inverse diurnal variation of phenylalanine: Implications
in maternal phenylketonuria. Hum Nutr Appl Nutr 1985;39A:224-226.
12. Fisch RO, Burke B, Bass J, et al: Maternal phenylketonuria — Chronology of the detrimental effects on
embryogenesis and fetal development: Pathological report, survey, clinical application Pediatr Pathol
1986;5:449-461.
13. Food and Nutrition Board, Committee on Dietary Allowances: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989.
14. Gropper S, Acosta PB: Effect of simultaneous ingestion of L-amino acids and whole protein on plasma amino acid
and urea nitrogen concentrations in humans. JPEN 1991;15:48-53.
15. Hanley WB, Clarke JTR, Schoonheyt W: Maternal phenylketonuria (MPKU): A review. Clin Biol 1986:20:149-56.
16. Hanley WB, Feigenbaum ASJ, Clarke JTR, et al: Vitamin B12 deficiency in adolescents and young adults with
phenylketonuria. Eur J Pediatr 1996;S155:S145-S147.
17. Herbert V: Folic acid. In Shils ME, et al (eds): Modern Nutrition in Health and Disease, ed 9. Baltimore: Williams &
Wilkins, 1999, pp 433-446.
18. Herrmann ME, Broesicke HG, Keller M, et al: Dependence of the utilization of a phenylalanine-free amino acid
mixture on different amounts of a single dose ingested. A case report. Eur J Pediatr 1994;153:501-503.
19. Jones BJM, Lees R, Andrews J, et al: Comparison of an elemental and polymeric enteral diet in patients with
normal gastrointestinal function. Gut 1983;24:78-84.
20. Kirby ML, Miyagawa ST: The effects of high phenylalanine concentration on chick embryonic development. J Inher
Metab Dis 1990;13:634-640.
21. Kirkman HN: Projections of a rebound in frequency of mental retardation from phenylketonuria. Appl Res Mental
Retard 1982;3:319-328.
22. Koch R, Friedman E, Azen C, et al: The international collaborative study of maternal phenylketonuria status report
1998. Mental Retard Devpt Disabilities Research Rev 1999;5:117-121.
23. Koch R, Friedman EG, Wenz E, et al: Maternal phenylketonuria. J Inher Metab Dis 1986;9 (Suppl 2):159-168.
24. Kudo Y, Boyd CAR: Transport of amino acids by the human placenta: Predicted effects thereon of maternal
hyperphenylalaninemia. J Inher Metab Dis 1990;13:617-626.
25. Lenke RR, Levy HL: Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome
of untreated and treated pregnancies. N Engl J Med 1980;303:1202-1208.
26. Leverton RM, Johnson N, Ellison J, et al: The quantitative amino acid requirements of young women.
IV. Phenylalanine, with and without tyrosine. J Nutr 1956;58:341-353.
27. Levy HL: Maternal phenylketonuria: Review with emphasis on pathogenesis. Enzyme 1987;38:312-320.
28. Lewis JS, Loskill S, Bunker ML, et al: N-Methylnicotinamide excretion of phenylketonuric children and a child with
Hartnup disease before and after phenylalanine and tryptophan load. Fed Proc 1974;33:666A.
29. Lynch BC, Pitt DB, Maddison TG, et al: Maternal phenylketonuria: Successful outcome in four pregnancies treated
prior to conception. Eur J Pediatr 1988;148:72-75.
30. Matalon R, Michals K, Azen C, et al: Maternal PKU collaborative study: The effect of nutrient intake on pregnancy
outcome. J Inher Metab Dis 1991;14:371-374.
31. Matalon KM, Acosta PB, Azen C, Matalon R: Congenital heart disease in maternal phenylketonuria: Effects of
blood phenylalanine and nutrient intake. Mental Retard Devpt Disabilities Research Rev 1999;5:122-124.
p-Hydroxyphenylpyruvic acid*
Homogentisic acid
Maleylacetoacetic acid isomerase (type Ib)
Maleylacetoacetic acid*
Succinylacetoacetic
Fumarylacetoacetic acid*
acid*
Succinylacetone*
* Accumulates In untreated
Fumaric acid tyrosinemia type Ia
+ ¹ Inhibited by NTBC
Acetoacetic acid Enzyme malfunction
C. Energy
1. Calculate energy provided by infant formula with iron, beikost, whole cow's milk, or table foods
(Table 3-2, p 58), and Tyrex (Table 3-3, p 59) required to fill PHE plus TYR and protein
prescriptions.
2. Subtract amount determined above from total energy prescription.
3. Provide remaining prescribed energy with Polycose ® Glucose Polymers powder
(23 kcal/Tbsp, 3.8 kcal/g) or liquid (2 kcal/mL) (Appendix 9, p A-9); Pro-Phree ® Protein-Free
Energy Module With Iron, Vitamins & Minerals (Appendix 11, p A-10); sugar (48 kcal/Tbsp); or
Free Foods B (Table 3-2, 58), depending on age of patient.
a. Do not use corn syrup or table sugar for infants because of osmolarity they yield (28).
b. Do not use honey for infants because it may contain botulinum toxin (44).
4. At least 50% of energy prescription should be derived from carbohydrate (9) if patient
tolerates osmolarity of medical food mixture.
D. Fluid and Mixing Instructions
1. Add sufficient boiled, cooled water to infant formula, Tyrex, and carbohydrate to yield
prescribed volume. Tap water may replace boiled, cooled water when preparing Tyrex for
older infants and children.
2. Mix with sterilized blender at lowest speed no longer than 3 to 4 seconds. Excess mixing
may destabilize emulsion. Medical food may also be mixed in tightly closed container by
shaking vigorously for 10 to 12 seconds.
3. Refrigerate in sterilized, closed containers until used. Discard unused portion 24 hours after
mixing because of nutrient loss.
4. Do not use terminal sterilization or boil because of Maillard reaction (Practical Aspects of
Nutrition Support, p viii).
5. Warm or cool medical food mixture to room temperature before feeding to infants. Shake
mixture well before feeding.
6. Do not warm medical food mixture for infants in microwave oven. Unevenly heated formula
can burn infants, and steam can make bottles explode.
7. Notify parents or caretakers when they may discontinue using aseptic technique in preparing
medical food mixture for infants.
8. For children and adults, chill Tyrex medical food mixture to improve taste.
E. Diet Guide
1. Provide parents or caretakers with completed Diet Guide (Appendix 22, p A-24) with each diet
change.
2. Feed infant 6 to 8 times daily (18, 39).
3. Feed children and adults 4 to 6 times daily (18, 39).
X. Sample Prescriptions
A. Example 1
Establish and fill prescription for newborn weighing 3.3 kg using Recommended Daily Nutrient
Intakes from Table 3-1, p 58, and nutrient contents from Tables 3-2 and 3-3, pp 58 and 59.
1. Establish prescription.
PHE and TYR 65 mg/kg x 3.3 kg = 214 mg
Protein 3.5 g/kg x 3.3 kg = 11.6 g
Energy 120 kcal/kg x 3.3 kg = 396 kcal
Fluid 148 mL/kg x 3.3 kg = 488 mL
2. Fill prescription.
Medical Food Mixture Measure PHE TYR Protein Energy
(mg) (mg) (g) (kcal)
Tyrex-1 61 g 0 0 9.2 293
Similac With Iron RTF 186 mL 110 108 2.6 126
Add water to make 488 mL (17 fl oz).
Total per day 110 108 11.8 419
Total per kg 33 33 3.6 127
Total PHE plus TYR 218
Approximate osmolarity of medical food mixture is < 450 mosm/L. Estimated potential renal solute
load is < 130 mosm.
B. Example 2
Establish and fill prescription for 3-year-old child weighing 13 kg using Recommended Daily
Nutrient Intakes from Table 3-1, p 58, and average nutrient contents from Tables 3-2 and 3-3,
pp 58 and 59.
1. Establish prescription.
PHE and TYR 380 mg
Protein 30 g
Energy 1,300 kcal
Fluid 1,365 mL
Women
11 to < 15 yr 800 - 1,200 > 50 2,200 (1500 - 3000) 1,500 - 3,000
15 to < 19 yr 800 - 1,200 > 55 2,100 (1200 - 3000) 1,200 - 3,000
> 19 yr 800 - 1,000 > 60 2,100 (1400 - 2500) 1,400 - 2,500
Men
11 to < 15 yr 990 - 1,200 > 55 2,700 (2000 - 3700) 2,000 - 3,700
15 to < 19 yr 1,000 - 1,500 > 65 2,800 (2100 - 3900) 2,100 - 3,900
> 19 yr 1,000 - 1,500 > 70 2,900 (2000 - 3300) 2,000 - 3,300
1
Modified from references 1, 4, 13, 42. Initiate therapy with lowest value for age range. Modify prescription based on
frequently obtained plasma values and growth.
2
Modified from reference 15.
3
Modified from reference 6. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid
to children and adults for each kcal ingested.
TABLE 3-2. Serving Lists for PHE- and TYR-Restricted Diets: Average Nutrient Content per Serving1
Dietary protein
Tissue protein
Phenylalanine
Tissue protein synthesis
catabolism CO2 + H2O
Melanin
Tyrosine*
Epinephrine
Thyroxine
Tyrosine aminotransferase (tyrosinemia type II)
p-Hydroxyphenylpyruvic acid*
Fumarylacetoacetic acid
Fumaric acid
+
Acetoacetic acid
V. Establish Goals of Nutrition Support (3, 5-7, 9, 10, 12, 13, 15, 17-20, 22, 25-29, 33, 36, 39, 47,
48)
A. Plasma PHE and TYR Concentrations
1. Maintain 2- to 4-hour postprandial plasma PHE and TYR concentrations in ranges noted
below, when measured by quantitative methods, or within normal range for age established by
laboratory used.
Amino Acid µmol/L mg/dL
PHE 35 - 90 0.58 - 1.49
TYR 40 - 80 0.72 - 1.45
2. In practice, obtaining blood 2 to 4 hours postprandially is not always possible. Acceptable local
standards should be developed if plasma amino acids are evaluated at other times (Practical
Aspects of Nutrition Support, p viii).
3. With plasma PHE and TYR concentrations in normal range, plasma amino acids must
be measured frequently to prevent deficiency (10).
B. Growth, Development, and Nutrition Status (11, 30, 35)
1. Support normal growth rate in infants and children and maintain appropriate weight for height
in adults.
2. Support normal development.
X. Sample Prescription
A. Example
Establish and fill prescription for 5-year-old weighing 20 kg who has tyrosinemia type II using
Recommended Daily Nutrient Intakes in Table 4-1, p 70, and average nutrient contents from
Table 4-2, p 70. Plasma PHE concentration is 100 µmol/L and plasma TYR is 500 µmol/L.
1. Establish prescription.
PHE and TYR 510 mg
Protein 35 g
Energy 1,300 kcal
Fluid 1,300 mL
2. Fill prescription.
Medical Food Mixture Measure PHE TYR Protein Energy
(mg) (mg) (g) (kcal)
Tyrex-2 93 g 0 0 27.9 381
Add water to make 946 mL (32 fl oz). Offer additional fluid ad libitum daily.
C. Parenteral Nutrition
1. If parenteral amino acid solutions are indicated, see Appendix 26, p A-28.
Age Nutrient
PHE 1, 2 TYR 1,2 Protein 3 Energy 3 Fluid 4
(mg/kg) (mg/kg) (g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 30 - 90 35 - 90 3.50 - 3.00 120 (145 - 95) 150-125
3 to < 6 mo 30 - 70 30 - 70 3.50 - 3.00 115 (145 - 95) 160-130
6 to < 9 mo 25 - 50 25 - 50 3.00 - 2.50 110 (135 - 80) 145-125
9 to < 12 mo 20 - 40 20 - 40 3.00 - 2.50 105 (135 - 80) 135-120
Women
11 to < 15 yr 300 - 650 290 - 500 > 50.0 2,200 (1500 - 3000) 1,500 - 3,000
15 to < 19 yr 280 - 700 270 - 450 > 55.0 2,100 (1200 - 3000) 1,200 - 3,000
> 19 yr 270 - 700 260 - 450 > 60.0 2,100 (1400 - 2500) 1,400 - 2,500
Men
11 to < 15 yr 275 - 700 260 - 550 > 55.0 2,700 (2000 - 3700) 2,000 - 3,700
15 to < 19 yr 350 - 750 340 - 550 > 65.0 2,800 (2100 - 3900) 2,100 - 3,900
> 19 yr 340 - 750 330 - 550 > 70.0 2,900 (2000 - 3300) 2,000 - 3,300
1
Initiate therapy with lowest value for age range. Modify prescription based on frequently obtained plasma values and
growth in infants and children and frequently obtained plasma values and weight maintenance in adults.
2
From references 1, 2, 16, 38, 49.
3
From references 21, 23.
4
From reference 8. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid to
children and adults for each kcal ingested.
1
TABLE 4-2. Serving Lists for PHE- and TYR-Restricted Diets: Average Nutrient Content per Serving
2
Isomil ® Soy Formula With Iron, Ready to Feed, 100 mL 88 60 1.66 68
2
Similac ® With Iron Infant Formula, Ready to Feed, 100 mL 59 58 1.40 68
Tyrex®-1 0 0 15.00 480
Tyrex®-2 0 0 30.00 410
3
Whole cow's milk, 100 mL 164 164 3.39 63
1
From reference 16.
2
See Appendices 4 through 7, pp A-4 to A-7, for complete nutrient composition of infant formulas.
3
From reference 45. See Appendix 8, p A-8, for complete nutrient composition.
1
Urine p-hydroxyphenyl organic acids.
2
Indicate if mg/dL or µmol/L.
REFERENCES
1. Acosta PB: The contribution of therapy of inherited amino acid disorders to knowledge of amino acid requirements.
In Wapnir RA (ed): Congenital Metabolic Diseases: Diagnosis and Treatment. New York: Marcel Dekker Inc,
1985, 115-135.
2. Acosta PB, Yannicelli S: Protein intake affects phenylalanine requirements and growth of infants with
phenylketonuria. Acta Paediatr 1994;407 (Suppl):66-67.
3. Al-Hemidan A, Al-Hazzaa SAF: Richner-Hanhart syndrome (tyrosinemia type II). Ophthal Genet 1995;16:21-26.
4. Arnold GL, Vladutiu CJ, Kirby RS: Protein insufficiency and impaired growth in children with PKU. J Inher Metab
Dis 2000;23 (Suppl 1):29A.
5. Balato N, Cusano F, Lembo G, Santoianni P: Tyrosinemia type II in two cases previously reported as Richner-
Hanhart syndrome. Dermatologica 1986;173:66-74.
6. Bardelli AM, Borgogni P, Farnetani MA, et al: Familial tyrosinemia with eye and skin lesions. Opthalmologica
(Basel) 1977;175:5-9.
7. Barr DGB, Kirk JM, Laing SC: Outcome in tyrosinaemia type II. Arch Dis Child 1991;66:1249-1250.
8. Behrman RE, Kleigman RM, Arvin AA (eds): Nelson Textbook of Pediatrics, ed 15. Philadelphia: WB Saunders Co,
1996.
9. Benoldi D, Orsoni JB, Allegra F: Tyrosinemia type II: A challenge for ophthalmologists and dermatologists. Pediatr
Dermat 1997;14:110-112.
10. Billson FA, Danks DM: Corneal and skin changes in tyrosinemia. Aust J Opthalmol 1975;3:112-115.
11. Calomme MR, Vanderpas JB, Francois B, et al: Thyroid function parameters during a selenium repletion/depletion
study in phenylketonuric subjects. Experientia 1995;51:1208-1215.
12. Cerone R, Holme E, Schiaffino MC, et al: Tyrosinemia type III: Diagnosis and ten-year follow-up. Acta Paediatr
1997;86:1013-1015.
13. Charlton KH, Binder PS, Wozniak L, Digby DJ: Pseudodendritic dermatitis and systemic tyrosinemia.
Ophthalmology 1981;88:355-360.
14. Cohn RM, Yudkoff M, Yost B, et al: Phenylalanine-tyrosine deficiency syndrome as a complication of the
management of hereditary tyrosinemia. Am J Clin Nutr 1977;30:209-214.
15. Colditz PB, Yu JS, Billson FA, et al: Tyrosinemia II. Med J Aust 1984;141:244-245.
16. Elsas LJ, Acosta PB: Nutrition support of inherited metabolic diseases. In Shils ME, et al (eds): Modern Nutrition in
Health and Disease, ed 9. Baltimore: Williams & Wilkins, 1999, pp 1003-1056.
17. Endo F, Awata H, Tanoue A, et al: Tyrosinaemia type III: Immunochemical studies on 4-hydroxyphenylpyruvic acid
dioxygenase and molecular cloning of cDNA for the enzyme. J Inher Metab Dis 1991;14:783-786.
18. Endo F, Kitano K, Uehara I, et al: Four-hydroxy-phenylpyruvic acid oxidase deficiency with normal
fumarylacetoacetase: A new variant form of hereditary tyrosinemia. Pediatr Res 1983;17:92-96.
19. D'Eufemia P, Finocchiaro R, Celli M, et al: Immunological abnormalities in a patient with tyrosinemia type II.
J Inher Metab Dis 1995;18:355-356.
20. D'Eufemia P, Giardini O, Cantani F, et al: Autoimmune thyroiditis in a case of tyrosinemia type II. J Inher Metab
Dis 1992;15:861-862.
21. FAO/WHO/UNU Expert Consultation: Energy and Protein Requirements. Geneva: World Health Organization,
1985.
22. Faull KF, Gan I, Halpern B, et al: Metabolic studies on two patients with nonhepatic tyrosinemia using deuterated
tyrosine loads. Pediatr Res 1977;11:631-637.
23. Food and Nutrition Board, Committee on Dietary Allowances: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989.
24. Francis DEM, Kirby DM, Thompson GN: Maternal tyrosinemia type II: Management and successful outcome. Eur J
Pediatr 1992;151:196-199.
25. Garibaldi IR, Siliato F, DeMartini I, et al: Oculocutaneous tyrosinosis. Helv Paediatr Acta 1977;32:173-180.
26. Giardini O, Cantani A, Kennaway NG, D'eufemia P: Chronic tyrosinemia associated with 4-hydroxy-phenylpyruvate
dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement. Pediatr Res
1983;17:25-29.
27. Goldsmith LA: Tyrosinemia II: Lessons in molecular pathophysiology. Pediatr Dermatol 1983;1:25-34.
28. Goldsmith LA, Reed J: Tyrosine-induced eye and skin lesions. JAMA 1976;236:382-384.
29. Goldsmith LA, Thorpe J, Roe CR: Hepatic enzymes of tyrosine metabolism in tyrosinemia II. J Invest Dermatol
1979;73:530-532.
30. Greeves LG, Carson DJ, Craig BG, McMaster D: Potentially life-threatening cardiac dysrhythmia in a child with
selenium deficiency and phenylketonuria. Acta Paediatr Scand 1990;79:1259-1262.
31. Gropper S, Acosta PB: Effect of simultaneous ingestion of L-amino acids and whole protein on plasma amino acid
and urea nitrogen concentrations in humans. JPEN 1991;15:48-53.
32. Gropper SS, Gropper DM, Acosta PB: Plasma amino acid response to ingestion of L-amino acids and whole
protein. J Pediatr Gastroenterol Nutr 1993;16:143-150.
B. Clinical Screening
1. Concentration ≥ 4 mg LEU/dL by bacterial inhibition assay requires differential diagnosis (11).
2. Infants who develop poor suck, shrill cry, lethargy, and vomiting; followed by loss of normal
tendon reflexes, alternating periods of hypertonia and hypotonia, seizures, loss of
consciousness, irregular respiration, apnea, metabolic acidosis, or maple syrup odor in warm
urine or ear wax should be evaluated (44).
C. Vitamin Responsive
1. Evaluate thiamin responsiveness in patients with any BCKAD complex activity.
2. Prescribe 100-500 mg oral thiamin per day for up to 3 months (8, 14).
C. Example 3
Establish and fill prescription for 15-year-old boy weighing 60 kg using Recommended Daily
Nutrient Intakes from Table 5-1, p 85 , and nutrient contents from Tables 5-2 and 5-3, pp 86 and
87.
1. Establish prescription.
ILE 330 mg/day
LEU 550 mg
VAL 410 mg
Protein 55 g
Energy 2,800 kcal
Fluid 2,800 mL
Age Nutrient
1,2 1 1,3
ILE LEU VAL Protein 4 Energy 4 Fluid 5
(mg/kg) (mg/kg) (mg/kg) (g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 36 - 60 60 - 100 42 - 70 3.50 - 3.00 120 (145 - 95) 150 - 125
3 to < 6 mo 30 - 50 50 - 85 35 - 60 3.50 - 3.00 115 (145 - 95) 160 - 130
6 to < 9 mo 25 - 40 40 - 70 28 - 50 3.00 - 2.50 110 (135 - 80) 145 - 125
9 to < 12 mo 18 - 33 30 - 55 21 - 38 3.00 - 2.50 105 (135 - 80) 135 - 120
Women
11 to < 15 yr 330 - 445 550 - 740 385 - 520 ≥ 50.0 2,200 (1500 - 3000) 1,500 - 3,000
15 to < 19 yr 330 - 445 550 - 740 385 - 520 ≥ 55.0 2,100 (1200 - 3000) 1,200 - 3,000
≥ 19 yr 300 - 450 400 - 620 420 - 650 ≥ 60.0 2,100 (1400 - 2500) 1,400 - 2,500
Men
11 to < 15 yr 325 - 435 540 - 720 375 - 505 ≥ 55.0 2,700 (2000 - 3700) 2,000 - 3,700
15 to < 19 yr 425 - 570 705 - 945 495 - 665 ≥ 65.0 2,800 (2100 - 3900) 2,100 - 3,900
≥ 19 yr 575 - 700 800 - 1100 560 - 800 ≥ 70.0 2,900 (2000 - 3300) 2,000 - 3,300
1
From references 1, 2, 9, 11, 25, 27, 35. Initiate prescription as noted in Section V, p 76. After 2 to 3 days of BCAA-
free feeds, begin diet with lowest recommended intake for age. Modify prescription based on frequently obtained
plasma values and growth in infants and children and frequently obtained plasma values and weight maintenance in
adults.
2
In general, ILE should be approximately 60% of LEU prescription.
3
In general, VAL should be approximately 70% of LEU prescription.
4
From reference 15.
5
From reference 5. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid to
children and adults for each kcal ingested. Fluid intake should be higher during illness to enhance urinary ketoacid
excretion.
Isomil Soy Formula With Iron, Ready to Feed, 100 mL 2 74 135 76 1.66 68
Similac With Iron Infant Formula, Ready to Feed, 100 mL 2 75 144 83 1.40 68
Whole cow's milk, 100 mL 3 205 332 227 3.39 63
1
Reference 11.
2
See Appendices 4 through 7, pp A-4 to A-7, for complete nutrient composition of infant formulas.
3
From reference 37. See Appendix 8, p A-8, for complete nutrient composition.
Cereals, Dry
Barley 4 1 Tbsp 18 35 24 0.5 15
Mixed 5 1 Tbsp + 1 tsp 16 38 21 0.5 19
Oatmeal 3 1 Tbsp 17 33 23 0.5 12
Oatmeal/banana 4 1 Tbsp 18 34 23 0.5 15
Oatmeal/mixed fruit 4 1 Tbsp 16 35 22 0.4 17
Rice 5 1 Tbsp + 1 tsp 18 34 24 0.4 19
Rice/apple bits 6 1 Tbsp + 2 tsp 16 33 21 0.4 25
Rice/apples 8 1 Tbsp + 2 tsp 16 35 23 0.5 31
Rice/banana 6 1 Tbsp + 2 tsp 15 33 21 0.4 23
Rice/mixed fruit 6 1 Tbsp + 2 tsp 16 35 23 0.4 24
Cereals, Jarred
1st Foods ®
Oatmeal 27 2 Tbsp 18 35 26 0.5 15
2nd Foods ®
Mixed/applesauce/bananas 55 3 Tbsp + 2-1/2 tsp 19 35 26 0.6 47
Oatmeal/applesauce/bananas 38 2 Tbsp + 2 tsp 18 35 24 0.5 32
Rice/applesauce 52 3 Tbsp + 2 tsp 17 35 23 0.4 47
3rd Foods ®
Mixed/apples/bananas 44 3 Tbsp 16 35 21 0.5 33
Oatmeal/apples/cinnamon 41 2 Tbsp + 2-1/3 tsp 16 35 22 0.5 27
Vegetables
1st Foods ®
Peas 16 1 Tbsp 21 36 26 0.5 8
Potatoes 67 1/4 cup + 2 tsp 21 35 34 0.7 31
Sweet potatoes 69 1/4 cup + 2-1/2 tsp 21 35 33 0.8 45
2nd Foods ®
Creamed corn 20 1 Tbsp + 1 tsp 14 35 18 0.4 13
Garden vegetables 24 1 Tbsp + 2 tsp 19 36 24 0.6 9
Mixed vegetables 41 2 Tbsp + 2-1/2 tsp 19 35 27 0.6 19
Peas 17 1 Tbsp + 1/2 tsp 21 36 26 0.5 8
Sweet potatoes 61 1/4 cup + 1 tsp 21 35 30 0.6 38
3rd Foods ®
Green beans/rice 42 3 Tbsp 18 35 23 0.5 18
Peas/rice 20 1 Tbsp + 1 tsp 20 35 24 0.4 10
Sweet potatoes 49 3 Tbsp + 1-1/4 tsp 23 35 32 0.7 39
FRUITS/JUICES
Fruit/Vegetable Juices
Apple/sweet potato 179 5-3/4 fl oz 16 25 23 0.5 93
Graduates™, Fruit Dices
Peaches 192 ND 13 25 19 1.0 94
Pears 208 ND 12 25 19 0.6 112
Tender Harvest™
Apple/sweet potato 156 1/2 cup + 3 Tbsp 14 25 19 0.5 98
Banana/oatmeal/peach 28 2 Tbsp 10 25 16 0.3 21
Pears/winter squash 58 1/4 cup 15 25 19 0.6 30
Tropical fruit blend 58 1/4 cup 9 25 17 0.3 43
VEGETABLES
1st Foods ®
Carrots 91 6 Tbsp + 1 tsp 20 30 27 0.8 32
Green beans 30 2 Tbsp 15 30 20 0.4 9
Squash 55 4 Tbsp 23 30 21 0.4 19
2nd Foods ®
Carrots 91 6 Tbsp + 1 tsp 20 30 27 0.7 27
Green beans 37 2 Tbsp + 1-1/2 tsp 16 30 21 0.5 6
Squash 62 1/4 cup + 1 tsp 19 30 21 0.5 38
3rd Foods ®
Carrots 77 1/3 cup + 1 tsp 20 30 27 0.6 22
Squash 81 1/3 cup + 2 tsp 18 30 21 0.6 27
Graduates™, Vegetable Dices
Carrots 60 ND 17 30 23 0.4 14
Green beans 29 ND 17 30 21 0.3 7
Mixed vegetables 19 ND 13 30 16 0.4 9
Tender Harvest™
Butternut squash/corn 29 2 Tbsp 13 30 16 0.6 14
Garden carrots/brown rice 73 1/3 cup 17 30 24 0.7 34
Green beans/potatoes 16 1 Tbsp 16 30 20 0.4 10
Spring garden vegetables 41 2 Tbsp + 2-1/3 tsp 18 30 23 0.6 14
FREE FOODS A
Fruit Dices
Graduates™
Apples 71 ND 2 5 4 0.1 34
Mixed fruit 50 ND 3 5 4 0.1 25
Tender Harvest ®
Pear/wild blueberry 31 2 Tbsp + 1/2 tsp 2 5 3 0.1 9
1
Prepared from 1998 and 1999 data from Gerber Products Co, Fremont, MI 49413.
ND = no data.
Weights and Measures: Except for Dry Cereals and Food Dices, the following weights apply:
Level Level
1 tsp = 1/3rd Tbsp = 4.8 g
1 Tbsp = 1/16th cup = 14.3 g
1/4 cup = 4 Tbsp = 57.2 g
1/3 cup = 5-1/3rd Tbsp = 76.2 g
1/2 cup = 8 Tbsp = 114.3 g
2/3 cup = 10 2/3rd Tbsp = 152.5 g
3/4 cup = 12 Tbsp = 171.5 g
1 cup = 16 Tbsp = 228.6 g
Grains
Corn, cooked
cream style 16 1 Tbsp 11 30 16 0.3 11
whole kernel 10 1 Tbsp 14 37 20 0.3 11
Rice, prepared
brown 18 1 Tbsp + 2 tsp 18 35 26 0.5 22
fried 14 1 Tbsp 17 29 22 0.4 18
Rice-A-Roni ® 16 1 Tbsp 17 32 21 0.5 20
white
long grain 16 1 Tbsp + 2 tsp 18 36 26 0.4 21
glutinous 21 1-1/2 Tbsp 18 35 25 0.4 20
medium grain 18 1-1/2 Tbsp 19 35 26 0.4 23
Pasta, cooked
Macaroni 10 1 Tbsp + 3/4 tsp 18 35 20 0.5 15
Noodles 13 1 Tbsp + 1/2 tsp 27 36 32 0.5 17
Ramen ® noodles 10 1 Tbsp 18 35 20 0.6 22
Spaghetti 9 1 Tbsp 16 31 18 0.5 14
Tubers
Potatoes, sweet
baked, in skin, mashed 25 1/4 small 25 37 33 0.5 30
candied or canned in syrup 49 1/4 cup 22 32 28 0.4 67
Potatoes, white
baked or boiled in skin 29 3 Tbsp 22 33 31 0.5 25
French fries (1/2" x 1/2" x 2") 15 3 fries 26 37 31 0.6 47
hash browns, frozen, cooked 20 2 Tbsp 27 37 31 0.6 43
Tater Tots ® 28 3 pieces 25 34 29 0.6 46
Yams, baked or boiled. mashed 34 1/4 cup 17 32 20 0.5 39
Miscellaneous
Chow mein noodles 5 1 Tbsp + 1-1/2 tsp 18 36 21 0.6 28
Jell-O ®, prepared w/ sugar 73 1/4 cup 16 35 29 1.1 43
Snack Foods
Arrowroot ® 5 1 biscuit 16 35 224 0.4 21
Barnum's Animal Crackers ® 8 3 crackers 18 35 21 0.5 33
Cookies
Oreo ® 11 1 cookie 17 32 21 0.5 53
Social Tea Biscuits ® 11 2 biscuits 21 39 24 0.6 48
FATS
Butter
stick 15 1 Tbsp 9 12 9 0.1 108
whipped 11 1 Tbsp + 1-1/2 tsp 6 9 6 0.1 79
Gravy
mushroom, canned 11 2-1/4 tsp 5 10 6 0.1 6
mushroom mix, dry 1 1 Tbsp 5 9 6 0.1 4
onion mix, dry 1 1 Tbsp 5 9 5 0.1 5
Margarine
soft in tub 14 1 Tbsp 6 9 6 0.1 101
stick or brick 14 1 Tbsp 6 12 9 0.1 101
Nondairy creamers w/ sodium caseinate
liquid 11 2-1/4 tsp 6 10 6 0.1 15
powder 2 1 tsp 6 9 7 0.1 11
Rich's ® Coffee Rich 43 3 Tbsp 6 10 6 0.1 66
Polyrich ® 43 3 Tbsp 6 10 6 0.1 66
Olives
black 15 3 olives 6 10 7 0.2 28
green 10 2 olives 4 8 6 0.2 12
Salad dressings, commercial
French 18 1 Tbsp + 1 tsp 6 9 7 0.1 78
Italian 15 1 Tbsp 6 9 6 0.1 69
mayonnaise 9 2 tsp 6 9 7 0.1 66
Miracle Whip ® 28 2 Tbsp 7 10 7 0.1 140
ranch 5 1 tsp 6 9 7 0.1 26
Russian 8 1-1/2 tsp 7 10 8 0.1 38
Thousand Island 13 2-1/2 tsp 7 10 7 0.1 49
Toppings, commercial
Cool Whip ®
extra creamy 4 2-1/2 tsp 6 10 7 0.1 13
regular 7 1 Tbsp + 2-1/4 tsp 6 10 7 0.1 19
Richwhip ®
pressurized 25 3 Tbsp + 1-1/4 tsp 6 10 6 0.1 69
prewhipped 10 2 Tbsp + 1-1/2 tsp 6 10 6 0.1 30
FRUITS
Fruits are raw unless otherwise noted. Weight of raw fruits is only for parts that can be eaten. Drain canned, cooked, and frozen fruits before
measuring or weighing.
Apple
canned, sweetened, sliced 204 1 cup 14 22 16 0.4 136
dried
cooked, sweetened 210 3/4 cup 16 26 19 0.4 174
uncooked 43 1/2 cup 16 25 19 0.4 104
sauce, canned, sweetened 255 1 cup 18 28 20 0.5 194
whole, large 230 1 fruit 18 28 21 0.4 136
Apricots
canned, heavy syrup 86 1/3 cup 14 27 16 0.5 71
dried
cooked, sweetened 31 2 Tbsp 12 23 14 0.4 38
uncooked 10 3 halves 12 22 14 0.4 25
frozen, sweetened 60 1/4 cup 12 24 15 0.4 60
nectar, canned 126 4 fl oz 14 26 16 0.5 72
whole 35 1 fruit 14 27 17 0.5 17
Avocados, all varieties, mashed 19 1 Tbsp + 1 tsp 13 23 18 0.4 31
Bananas 38 1/3 small 13 27 18 0.4 35
Blackberries
canned, heavy syrup 32 2 Tbsp 10 21 12 0.4 30
raw 72 1/2 cup 12 26 15 0.5 37
Blueberries
canned, heavy syrup 64 1/4 cup 13 25 17 0.4 66
frozen, sweetened 115 1/2 cup 14 26 20 0.4 94
raw 72 1/2 cup 15 29 20 0.5 41
Boysenberries, canned, heavy syrup 48 3 Tbsp 14 21 18 0.5 42
Cherries
sour red, canned, heavy syrup 117 1/2 cup 16 23 21 0.9 106
sweet
canned, heavy syrup 97 6 Tbsp 17 26 22 0.6 80
raw 72 1/2 cup 17 24 22 0.9 52
Dates, dried 25 3 dates 12 22 16 0.5 68
Figs
canned, heavy syrup 130 1/2 cup 16 22 18 0.5 114
dried
cooked 49 3 Tbsp 19 27 24 0.6 52
uncooked 19 1 fig 17 25 22 0.6 48
whole 75 1-1/2 medium 18 26 21 0.6 56
Fruit cocktail, canned, heavy syrup 130 1/2 cup 12 22 20 0.5 93
Fruit salad, canned, heavy syrup 128 1/2 cup 13 23 18 0.4 94
Gooseberries, canned, light syrup 63 1/4 cup 13 25 17 0.4 46
Grapefruit, all varieties
canned, light syrup 125 1/2 cup 23 21 37 0.9 46
juice, canned, unsweetened 185 6 fl oz 26 23 41 1.0 46
sections 115 1/2 cup 19 26 31 0.7 37
Grapes
adherent skin 160 1 cup 8 22 29 1.1 114
juice, canned or bottled 210 6 2/3 fl oz 15 25 21 1.2 129
slipskin 184 2 cups 10 24 32 1.2 484
VEGETABLES
Vegetables are raw unless otherwise noted. Weight of raw vegetables is only for parts that can be eaten. Drain canned and cooked
vegetables before measuring or weighing.
Soups, Campbell's ®, Condensed. Measure before diluting and dilute with water only.
Asparagus, Cream of 26 1 Tbsp + 2 tsp 20 34 24 0.5 18
Celery, Cream of 31 2 Tbsp 19 31 22 0.5 22
Chicken Gumbo 21 1 Tbsp + 1 tsp 17 28 20 0.4 9
Chicken Vegetable 15 1 Tbsp 17 29 20 0.4 9
Minestrone 15 1 Tbsp 16 30 22 0.5 10
Mushroom, Cream of 26 1 Tbsp + 2 tsp 20 33 22 0.4 27
Onion 31 2 Tbsp 33 33 22 0.9 14
Potato, Cream of 31 2 Tbsp 19 29 23 0.4 18
Tomato 42 2 Tbsp + 2 tsp 20 33 22 0.7 29
Tomato Bisque 31 2 Tbsp 19 32 21 0.5 30
Vegetarian Old-Fashioned 26 1 Tbsp + 2 tsp 21 31 21 0.5 14
Vegetarian Vegetable 25 1 Tbsp + 2 tsp 20 30 20 0.4 15
FREE FOODS A
Limit to prescribed number of servings.
Desserts
Apple butter 20 1 Tbsp 3 5 4 0.1 37
Fruit Ice 61 1/3 cup 6 6 10 0.2 78
Fruit bars, frozen
orange 56 3/4 bar 6 5 9 0.2 53
pineapple 24 1/3 bar 3 5 4 0.1 23
Gelatin Pop 15 1/3 pop 2 5 4 0.2 10
Marmalade 39 2 Tbsp 5 5 8 0.2 100
Marshmallow 8 1 large 2 5 4 0.2 26
M&M ® candy, plain 1 1 piece 3 5 3 0.1 4
Raisins, chocolate covered 1 1 raisin 3 6 4 0.1 6
Sorbet
peach 17 1 Tbsp + 1/2 tsp 2 5 5 0.1 17
pineapple 26 1 Tbsp + 2-1/4 tsp 3 5 4 0.1 25
strawberry 25 1 Tbsp + 2 tsp 2 5 3 0.1 24
Fruits/Juices
Apple juice, frozen, diluted 171 5-1/2 fl oz 3 5 3 0.1 80
Cranberry juice cocktail 253 8 fl oz 3 5 3 0.1 144
Fruit juice bar 104 2 bars 2 4 3 0.2 86
Fruit pie filling
apple 81 1/3 cup 3 5 4 0.1 89
cherry 81 2 Tbsp 3 4 4 0.2 33
peach 29 1 Tbsp + 2-1/4 tsp 29 3 5 0.1 31
strawberry 18 1 Tbsp + 1/2 tsp 2 5 3 0.1 20
Jams 20 1 Tbsp 3 6 3 0.1 54
Nectar
papaya 126 4 fl oz 3 5 4 0.2 71
pear 78 2-1/2 fl oz 2 5 3 0.1 47
Miscellaneous
Chocolate drink powder 3 1 tsp 3 5 3 0.1 11
Chocolate syrup 6 1 tsp 4 6 6 0.1 14
Honey 42 2 Tbsp 4 5 4 0.1 128
Vegetables
Chives, chopped 3 1 Tbsp 4 5 4 0.1 1
Cucumbers, sliced 26 1/4 cup 5 6 5 0.1 4
Horseradish 1 1-1/4 tsp 3 5 4 0.1 1
Leeks, chopped 6 1 Tbsp 4 6 4 0.1 4
Onions, spring, chopped 6 1 Tbsp 4 6 5 0.1 2
Peppers, jalapeño, canned, chopped 8 1 Tbsp 2 4 3 0.1 2
Radishes, sliced 14 2 Tbsp 4 5 5 0.1 3
FREE FOODS B
These foods contain little or no branched-chain amino acids. They may be used as desired if patient is not overweight and if they do not
depress appetite for prescribed foods.
Beverages
Carbonated beverages, caffeine-free 113 4 fl oz 0 0 0 0.0 52
Exceed ® Energy Drink 124 4 fl oz 0 0 0 0.0 35
Gatorade ® 125 4 fl oz 0 0 0 0.0 25
Kool-Aid ®, sweetened w/ sugar 125 4 fl oz 0 0 0 0.0 70
Lemonade 125 4 fl oz 1 1 1 0.0 49
Limeade, sweetened w/ sugar 125 4 fl oz 1 1 1 0.0 59
Strawberry drink powder 8 1 Tbsp 0 0 0 0.0 33
Tang ® 125 4 fl oz 0 0 0 0.0 59
Tea, instant, powder 1 1 Tbsp 0 0 0 0.0 3
Desserts/Sweeteners
Candies
candy corn 16 10 pieces 0 1 0 0.0 58
gum drops 16 8 pieces 0 1 0 0.0 56
hard candy 15 3 pieces 0 0 0 0.0 58
jelly beans 14 5 pieces 0 0 0 0.0 51
lollipop 28 1 medium 0 0 0 0.0 108
Frosting, strawberry or vanilla 16 1 Tbsp 0 0 0 0.0 69
Jellies 20 1 Tbsp 0 0 0 0.0 54
Lemon pudding, canned (Hunt's ®) 121 1 can 0 0 0 0.0 151
Molasses 21 1 Tbsp 0 0 0 0.0 48
Popsicle ®, twin 128 1 popsicle 0 0 0 0.0 95
Sugar
brown 14 1 Tbsp 0 0 0 0.0 52
powdered 8 1 Tbsp 0 0 0 0.0 31
table 12 1 Tbsp 0 0 0 0.0 48
Syrup
corn 20 1 Tbsp 0 0 0 0.0 58
maple 20 1 Tbsp 0 0 0 0.0 50
table 20 1 Tbsp 0 0 0 0.0 50
Miscellaneous
Salad dressing, oil/vinegar 16 1 Tbsp 0 0 0 0.0 70
1
See Appendix 12, p A-11, for composition of very-low-protein foods.
1
Indicate if µmol/L or mg/dL.
REFERENCES
1. Acosta PB: The contribution of therapy of inherited amino acid disorders to knowledge of amino acid requirements.
In Wapnir RA (ed): Congenital Metabolic Diseases: Diagnosis and Treatment. New York: Marcel Dekker Inc,
1985, 115-135.
2. Acosta PB, Yannicelli S: Nutrition support of inherited disorders of amino acids metabolism: Part 2. Top Clin Nutr
1995;10:48-72 (review).
3. Acosta PB, Yannicelli S: Protein intake affects phenylalanine requirements and growth of infants with
phenylketonuria. Acta Paediatr 1994;407 (Suppl):66-67.
4. Arnold GL, Vladutiu CJ, Kirby RS: Protein insufficiency and impaired growth in children with PKU. J Inher Metab
Dis 2000;23 (Suppl) 1:29A.
5. Behrman RE, Kliegman RM, Arvin AA (eds): Nelson Textbook of Pediatrics, ed 15. Philadelphia: WB Saunders Co,
1996.
6. Berry GT, Heidenreich R, Kaplan P, et al: Branched-chain amino acid free parenteral nutrition in the treatment of
acute metabolic decompensation in patients with maple syrup urine disease. N Engl J Med 1991;324:175-179.
7. Calomme MR, Vanderpas JB, Francois B, et al: Thyroid function parameters during a selenium repletion/depletion
study in phenylketonuric subjects. Experientia 1995;51:1208-1215.
8. Chuang DT, Shih VE: Maple syrup urine disease (Branched-chainketoaciduria). In Scriver CR, et al (eds): The
Metabolic and Molecular Bases of Inherited Disease, ed 8. New York: McGraw-Hill Medical Publishing Division,
2001, pp 1971-2005.
9. Clow CL, Reade TM, Scriver CR: Outcome of early and long-term management of classical maple syrup urine
disease. Pediatrics 1981;68:856-862.
10. DiGeorge AM, Rezvani I, Garibaldi LR, et al: Prospective study of maple syrup urine disease for the first four days
of life. N Engl J Med 1982;307:1492-1495.
11. Elsas LJ, Acosta PB: Nutrition support of inherited metabolic diseases. In Shils ME, et al (eds): Modern Nutrition in
Health and Disease, ed 9. Baltimore: Williams & Wilkins, 1999, pp 1003-1056.
12. Elsas LJ, Danner DJ: The role of thiamine in maple syrup urine disease. Ann NY Acad Sci 1982;378:404-421.
13. Elsas LJ, Ellerine NP, Klin PD: Practical methods to estimate whole body leucine oxidation in maple syrup urine
disease. Pediatr Res 1993;33:445-451.
14. Fernhoff PM, Lubitz D, Danner DJ, et al: Thiamine response in maple syrup urine disease. Pediatr Res
1985;19:1011-1016.
15. Food and Nutrition Board, Committee on Dietary Allowances: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989.
16. Giacoia GP, Berry GT: Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during
treatment of maple syrup urine disease. Am J Dis Child 1993;147;954-956.
17. Gropper S, Acosta PB: Effect of simultaneous ingestion of L-amino acids and whole protein on plasma amino acid
concentrations and urea nitrogen in humans. JPEN 1991;15:48-53.
18. Gropper SS, Gropper DM, Acosta PB: Plasma amino acid response to ingestion of L-amino acids and whole
protein. J Pediatr Gastroenterol Nutr 1993;16:143-150.
19. Gropper SS, Naglak MC, Nardella M, et al: Nutrient intakes of adolescents with PKU and infants and children with
MSUD on semisynthetic diets. J Am Col Nutr 1993;12:108-114.
20. Hammerson G, Wille L, Schmidt H, et al: Maple syrup urine disease: Treatment of the acutely ill newborn. Eur J
Pediatr 1978;129:157-165.
21. Henstenburg JD, Mazur AT, Kaplan PB, et al: Nutritional assessment and body composition in children with maple
syrup urine disease (MSUD). J Amer Diet Assoc 1990;90:A-32.
22. Herrmann ME, Broesicke HG, Keller M, et al: Dependence of the utilization of a phenylalanine-free amino acid
mixture on different amounts of single dose ingested. A case report. Eur J Pediatr 1994;153:501-503.
23. Jones BJM, Lees R, Andrews J, et al: Comparison of an elemental and polymeric enteral diet in patients with
normal gastrointestinal function. Gut 1983;24:78-84.
24. Kaplan P, Mazur A, Field M, et al: Intellectual outcome in children with maple syrup urine disease. J Pediatr
1991;119:46-50.
25. Kindt E, Halvorsen S: The need of essential amino acids in children: An evaluation based on the intake of
phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino
transferase defect, and maple syrup urine disease. Am J Clin Nutr 1980;33:279-286.
26. Koch SE, Packman S, Koch TK, Williams ML: Dermatitis in treated maple syrup urine disease. J Am Acad
Dermatol 1993;28:289-292.
27. Leverton RM, Johnson N, Dazur J, Ellison J: Amino acid requirements of young adults. In Albanese AA (ed):
Protein and Amino Acid Nutrition. New York: Academic Press, 1959.
28. Lombeck I, Kasperek K, Harbisch HD, et al: The selenium state of children. II. Selenium content of serum, whole
blood, hair and the activity of erythrocyte glutathione peroxidase in dietetically treated patients with PKU and
MSUD. Eur J Pediatr 1978;128:213-223.
Isovaleric acid
L-Leucine Isovalerylglycine
Transaminase 3-Hydroxyisovaleric acid
4-Hydroxyisovaleric acid
Mesaconic acid
2-Keto-isocaproic acid Methylsuccinic acid
Branched-chain α-ketoacid Isovalerylglucuronide
dehydrogenase Isovalerylglutamic acid
Isovaleryl-CoA Isovalerylalanine
Isovalerylsarcosine
3-Hydroxyisoheptanoic acid
Isovalerylcarnitine
Isovaleryl-CoA dehydrogenase
3-Methylcrotonic acid
3-Methylcrotonyl-CoA 3-Methylcrotonylglycine
3-Hydroxyisovaleric acid
3-Methylcrotonyl-CoA carboxylase
3-Methylglutaconic acid
3-Methylglutaconyl-CoA 3-Methylglutaric acid
3-Methylglutarylcarnitine
3-Methylglutaconyl-CoA hydratase
3-Hydroxy-3-Methylglutaric acid
3-Hydroxy-3-methylglutaryl-CoA
3-Hydroxy-3-methylglutaryl-CoA
lyase 3-Hydroxy-3-methylglutaryl-CoA
reductase
E. Carnitine Status
1. Evaluate plasma free carnitine concentration weekly until amount of L-carnitine required to
maintain concentration > 30 µmol/L is determined, then evaluate every 3 months.
a. If free carnitine concentration in plasma is < 30 µmol/L:
1) Increase prescribed L-carnitine by 5-10%, then evaluate free carnitine concentration
in 1 week.
2) If free carnitine concentration remains low, repeat above process until value is in
treatment range.
F. Iron Status
1. Plasma ferritin concentration.
a. Evaluate at 6, 9, and 12 months of age and every 6 months thereafter (Appendix 17,
p A-18, for standards).
b. If plasma ferritin concentration is below standard:
1) Increase iron intake to 4 mg/kg with supplements (ferrous sulfate).
2) Evaluate plasma ferritin concentration monthly on increased iron intake.
3) Continue iron supplements until plasma ferritin concentration is in normal range.
2. Complete blood count and differential.
a. Hemoglobin and hematocrit concentrations and differential should be evaluated at 6, 9,
and 12 months of age and every 6 months thereafter (Appendix 17, p A-18, for
standards).
C. Example 3
Establish and fill prescription for 3-year-old child weighing 17 kg who has
3-methylcrotonylglycinuria. Use the Recommended Daily Nutrient Intakes from Table 6-1, p 115,
and nutrient contents from Tables 6-2 and 6-3, pp 116 and 117.
1. Establish prescription.
LEU 600 mg/day
GLY 1,700 mg
L-Carnitine 1,275 mg
Protein 30 g
Energy 1,300 kcal
Fluid 1,300 mL
2. Fill prescription.
Medical Food Mixture Amount LEU GLY L-Carnitine Protein Energy
(mg) (mg) (mg) (g) (kcal)
I-Valex-2 67 g 0 2,023 1,206 20.1 275
Add water to make 710 mL (24 fl oz). Offer additional fluid ad libitum daily.
Age Nutrient
1,2 3,4
LEU Protein Energy 3 Fluid 5
(mg/kg) (g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 80 - 150 3.50 - 3.00 120 (145 - 95) 160-125
3 to < 6 mo 70 - 140 3.50 - 3.00 115 (145 - 95) 160-130
6 to < 9 mo 60 - 130 3.00 - 2.50 110 (135 - 80) 145-125
9 to < 12 mo 50 - 120 3.00 - 2.50 105 (135 - 80) 135-120
Women
11 to < 15 yr 700 - 900 > 50.0 2,200 (1500 - 3000) 1,500 - 3,000
15 to < 19 yr 620 - 820 > 55.0 2,100 (1200 - 3000) 1,200 - 3,000
> 19 yr 620 - 820 > 60.0 2,100 (1400 - 2500) 1,400 - 2,500
Men
11 to < 15 yr 1,100 - 1500 > 55.0 2,700 (2000 - 3700) 2,000 - 3,700
15 to < 19 yr 1,100 - 1500 > 65.0 2,800 (2100 - 3900) 2,100 - 3,900
> 19 yr 1,000 - 1400 > 70.0 2,900 (2000 - 3300) 2,000 - 3,300
1
Modified from references 1 and 66. Initiate therapy with lowest value for age. Modify prescription based on
frequently obtained blood and/or plasma values and growth in infants and children and frequently obtained
plasma values and weight maintenance in adults.
2
Modified from reference 21.
3
During metabolic acidosis and/or infection following trauma, energy requirements may be 25-40% greater than those
listed. Initiate therapy with energy value outside parentheses.
4
Modified from reference 10. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL
fluid to children and adults for each kcal ingested.
1
Isovaleric acid.
2
ß-hydroxyisovaleric acid.
3
Isovalerylglycine
REFERENCES
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1985, 115-135.
2. Acosta PB, Yannicelli S: Protein intake affects phenylalanine requirements and growth of infants with
phenylketonuria. Acta Paediatr 1994;407 (Suppl):66-67.
3. Arnold GL, Vladutiu CJ, Kirby RS: Protein insufficiency and impaired growth in children with PKU. J Inher Metab
Dis 2000;23 (Suppl 1):29A.
4. Arnold WC, Brewster M, Byrne WJ, Booth B: Fanconi syndrome in a patient with a variant of isovaleric acidemia.
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5. Attia N, Sakati NAL, Ashwal A, et al: Isovaleric acidemia appearing as diabetic ketoacidosis. J Inher Metab Dis
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6. Bakker HD, Wanders RJA, Schutgens RBH, et al: 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: Absence of
clinical symptoms due to a self-imposed dietary fat and protein restriction. J Inher Metab Dis 1993;16:1061-1062.
7. Bartlett K, Gompertz D: The specificity of glycine-N-acylase and acylglycine excretion in the organic acidaemias.
Biochem Med 1974;10:15-23.
8. Baumgartner R: Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency. In Fernandes J, et al (eds):
Inborn Metabolic Diseases: Diagnosis and Treatment. New York: Springer-Verlag, 1990, pp 321-322.
9. Beemer FA, Bartlett K, Duran M, et al: Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two
sibs. Eur J Pediatr 1982;138:351-354.
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1996.
11. Berry HK, Suchy F, Hunt M, Norman E: Treatment of 3-hydroxy-3-methylglutaric aciduria in first cousins. In
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Elsevier, 1981, pp 395-400.
12. Berry GT, Yudkoff M, Segal S: Isovaleric acidemia: Medical and neurodevelopmental effects of long-term therapy.
J Pediatr 1988;113:58-64.
13. Budd MA, Tanaka K, Holmes LB, et al: Isovaleric acidemia. Clinical features of a new genetic defect of leucine
metabolism. N Engl J Med 1967;277:321-327.
14. Chalmers RA, Stacey TE, Tracey BM, de Sousa C: L-carnitine insufficiency in disorders of organic acid
metabolism: Response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric
aciduria. J Inher Metab Dis 1984;7 (Suppl 2):109-110.
15. Chitayat D, Chemke J, Gibson KM, et al: 3-Methylglutaconic aciduria: A marker for as yet unspecified disorders
and the relevance of prenatal diagnosis in a “new” type (type 4). J Inher Metab Dis 1992;15:204-212.
16. Cohn RM, Yudkoff M, Rothman R, Segal S: Isovaleric acidemia: Use of glycine therapy in neonates. N Engl J Med
1978;299:996-999.
17. de Sousa C, Chalmers RA, Stacey TE, et al: The response to L-carnitine and glycine therapy in isovaleric
acidemia. Eur J Pediatr 1986;144:451-456.
18. Duran M, Beemer FA, Tibosch AS, et al: Inherited 3-methylglutaconic aciduria in two brothers — another defect of
leucine metabolism. J Pediatr 1982;101:551-554.
19. Duran M, Schutgens RBH, Ketel A, et al: 3-Hydrox-3-methylglutaryl coenzyme A lyase deficiency: Postnatal
management following prenatal diagnosis by analysis of maternal urine. J Pediatr 1979;95:1004-1007.
20. Elsas LJ, Acosta PB: Nutrition support of inherited metabolic diseases. In Shils ME, et al (eds): Modern Nutrition in
Health and Disease, ed 9. Baltimore: Williams & Wilkins, 1999, pp 1003-1056.
21. Food and Nutrition Board, Committee on Dietary Allowances: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989.
22. Francois B, Bachmann C, Schutgens RBH: Glucose metabolism in a child with 3-hydroxy-3-methyl-glutaryl-
coenzyme A lyase deficiency. J Inher Metab Dis 1981;4:163-164.
23. Fries MH, Rinaldo P, Schmidt-Sommerfeld E, et al: Isovaleric acidemia: Response to a leucine load after three
weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy. J Pediatr
1996;129:449-452.
24. Gibson KM, Breuer J, Nyhan WL: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Review of 18 reported
patients. Eur J Pediatr 1988;148:180-186.
25. Gibson KM, Lee CF, Wappner RS: 3-Methylglutaconyl-coenzyme-A hydratase deficiency: A new case. J Inher
Metab Dis 1992;15:363-366.
26. Gibson KM, Sherwood WG, Hoffmann GF, et al: Phenotypic heterogeneity in syndromes of 3-methylglutaconic
aciduria. J Pediatr 1991;118:885-890.
27. Gitzelmann R, Steinmann B, Niederwieser A, et al: Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase
deficiency presenting at age 20 months with sopor, hypoglycaemia, and ketoacidosis. J Inher Metab Dis
1987;10 (Suppl 2):290-292.
28. Greene CL, Cann HM, Robinson BH, et al: 3-Hydroxy-3-methylglutaric aciduria. J Neurogenet 1984;1:165-173.
© 2001 Ross Products Division Disorders of Leucine Catabolism 121
29. Gropper S, Acosta PB: Effect of simultaneous ingestion of L-amino acids and whole protein on plasma amino acid
concentrations and urea nitrogen in humans. JPEN 1991;15:48-53.
30. Gropper SS, Gropper DM, Acosta PB: Plasma amino acid response to ingestion of L-amino acids and whole
protein. J Pediatr Gastroent Nutr 1993;16:143-150.
31. Gunel M, Coskum T, Tokathi A, Ozalp I: 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency. J Inher Metab
Dis 1993;16:1062-1063.
32. Herrmann ME, Broesicke HG, Keller M, et al: Dependence of the utilization of a phenylalanine-free amino acid
mixture on different amounts of single dose ingested: A case report. Eur J Pediatr 1994;153:501-503.
33. Hou JW, Wong TR: 3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy. J Inher Metab Dis
1995;18:645-646.
34. Huemer M, Muehl A, Wandl-Vergesslich K, et al: Stroke-like encephalopathy in an infant with 3-hydroxy-3-
methylglutaryl-coenzyme A lyase deficiency. Eur J Pediatr 1998;157:743-746.
35. Hyman SL, Porter CA, Page TJ, et al: Behavior management of feeding disturbances in urea cycle and organic
acid disorders J Pediatr 1987;111:558-562.
36. Ito T, Kidouchi K, Sugiyama N, et al: Liquid chromatographic-atmospheric pressure chemical ionization mass
spectrometric analysis of glycine conjugates and urinary isovalerylglycine in isovaleric acidemia. J Chromat
1995;B670:317-322.
37. Itoh T, Ito T, Ohba S, et al: Effect of carnitine administration on glycine metabolism in patients with isovaleric
acidemia: Significance of acetylcarnitine determination to estimate the proper carnitine dose. Tohoku J Exp Med
1996;179:101-109.
38. Jones BJM, Lees R, Andrews J, et al: Comparison of an elemental and polymeric enteral diet in patients with
normal gastrointestinal function. Gut 1983;24:78-84.
39. Kelleher JF, Yudkoff M, Hutchinson R, et al: The pancytopenia of isovaleric acidemia. Pediatrics
1980;65:1023-1027.
40. Ketel A, Ket JL, Schutgens RBH, et al: Clinical and biochemical observations on a child with a deficiency of
3-hydroxy-3-methylglutaryl coenzyme A lyase. J Inher Metab Dis 1980;3:89-90.
41. Krieger I, Tanaka K: Therapeutic effects of glycine in isovaleric acidemia. Pediatr Res 1976;10:25-29.
42. Lehnert W, Niederhoff H, Suormala T, Baumgartner ER: Isolated biotin-resistant 3-methylcrotonyl-CoA
carboxylase deficiency: Long-term outcome in a case with neonatal onset. Eur J Pediatr 1996;155:568-572.
43. Leupold D, Bojasch M, Jakobs C: 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly
and mild metabolic acidosis. Eur J Pediatr 1982;183:73-76.
44. Lott IT, Erickson AM, Levy HL: Dietary treatment of an infant with isovaleric acidemia. Pediatrics 1972;49:616-618.
45. MacLean W, Graham G: Pediatric Nutrition in Clinical Practice. Menlo Park, Calif: Addison-Wesley Publishing Co,
1982.
46. Millington DS, Roe CR, Maltby DA, Inoue F: Endogenous catabolism is the major source of toxic metabolites in
isovaleric acidemia. J Pediatr 1987;110:56-60.
47. Naglak M, Salvo R, Madsen K, et al: The treatment of isovaleric acidemia with glycine supplements. Pediatr Res
1988;24:9-13.
48. Narisawa K, Gibson KM, Sweetman L, et al: Deficiency of 3-methylglutaconyl- coenzyme A hydratase in two
siblings with 3-methylglutaconic aciduria. J Clin Invest 1986;77:1148-1152.
49. Ohkohchi N, Andoh T, Ohi R, Mori S: Defined formula diets alter characteristics of the intestinal transport of amino
acids and peptides in growing rats. J Pediatr Gastroenterol Nutr 1990;10:490-496.
50. Ostmann-Smith I, Brown G, Johnson A, Land JM: Dilated cardiomyopathy due to type II X-linked
3-methylglutaconic aciduria: successful treatment with pantothenic acid. Br Heart J 1994;72:349-53.
51. Pearson MA, Aleck KA, Heidenreich RA: Benign clinical presentation of 3-methylcrotonylglycinuria. J Inher Metab
Dis 1995;18:640-641.
52. Posati LP, Orr ML: Composition of Foods: Dairy and Egg Products, Agriculture Handbook No. 8-1. Washington,
DC: US Dept of Agriculture, Agricultural Research Service, 1976.
53. Pratt EL, Snyderman SE, Cheung MW, et al: The threonine requirement of the normal infant. J Nutr
1955;56:231-251.
54. Riubier D, Parvy P, Bardet J, et al: Alloisoleucine in isovaleric acidemia. J Inher Metab Dis 1992;15:154-155.
55. Roe CR, Millington DS, Maltby DA: Identification of 3-methylglutaryl-carnitine. J Clin Invest 1984;77:1391-1394.
56. Roe CR, Millington DS, Maltby DA, et al: L-carnitine therapy in isovaleric acidemia. J Clin Invest
1984;74:2290-2295.
57. Rolland MD, Divry P, Zabot MT, et al: Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old
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C. Example 3
Establish and fill prescription for 15-year-old boy weighing 60 kg using Recommended Daily
Nutrients Intakes from Table 7-1, p 133 and nutrient contents from Table 7-2, p 133.
1. Establish prescription.
ILE 1,300 mg/day
LEU < > 1,650 mg
VAL < > 1,300 mg
Protein 65 g
Energy 2,800 kcal
Fluid 2,800 mL
2. Fill prescription.
Medical Food Mixture Measure ILE LEU VAL Protein Energy
(mg) (mg) (mg) (g) (kcal)
Ketonex-2 122 g 0 0 0 36.6 500
Whole cow's milk 314 mL 644 1,042 713 10.6 198
Add water to make 1,000 mL (34 fl oz). Offer additional fluid ad libitum daily.
Age Nutrient
ILE1 LEU1 VAL1 Protein2 Energy2 Fluid3
(mg/kg) (mg/kg) (mg/kg) (g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 90 - 140 > 180 > 100 3.50 - 3.00 120 (145 - 95) 150 - 125
3 to < 6 mo 85 - 135 > 160 > 90 3.50 - 3.00 115 (145 - 95) 160 - 130
6 to < 9 mo 80 - 135 > 150 > 80 3.00 - 2.50 110 (135 - 80) 145 - 125
9 to < 12 mo 75 - 125 > 140 > 70 3.00 - 2.50 105 (135 - 80) 135 - 120
Women
11 to < 15 yr 1,200 - 1,500 >1,900 > 1,800 > 50 2,200 (1500 - 3000) 1,500 - 3,000
15 to < 19 yr 1,000 - 1,300 > 1,300 > 1,000 > 55 2,100 (1200 - 3000) 1,200 - 3,000
> 19 yr 1,000 - 1,300 > 1,330 > 1,000 > 60 2,100 (1400 - 2500) 1,400 - 2,500
Men
11 to < 15 yr 1,000 - 1,300 > 1,900 > 1,150 > 55 2,700 (2000 - 3700) 2,000 - 3,700
15 to < 19 yr 1,300 - 1,650 > 1,650 > 1,300 > 65 2,800 (2100 - 3900) 2,100 - 3,900
> 19 yr 1,300 - 1,650 > 1,650 > 1,300 > 70 2,900 (2000 - 3300) 2,000 - 3,300
1
From references 1, 12, and 24. Initiate prescription with lowest recommended intake for age. Modify prescription
based on frequently obtained plasma values and growth in infants and children and frequently obtained plasma
values and weight maintenance in adults.
2
Modified from reference 13.
3
From reference 5. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid to
children and adults for each kcal ingested. Fluid intake should be higher during illness to enhance urinary ketoacid
excretion.
1
TABLE 7-2. Serving Lists for ILE-Restricted Diets: Average Nutrient Content per Serving
1
Indicate if µmol/L or mg/dL.
REFERENCES
1. Acosta PB: The contribution of therapy of inherited amino acid disorders to knowledge of amino acid requirements.
In Wapnir RA (ed): Congenital Metabolic Diseases: Diagnosis and Treatment. New York: Marcel Dekker Inc,
1985, 115-135.
2. Acosta PB, Yannicelli S: Protein intake affects phenylalanine requirements and growth of infants with
phenylketonuria. Acta Paediatr 1994;407 (Suppl):66-67.
3. Aramaki S, Lehotay D, Sweetman L, et al: Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate
and tiglyglycine after isoleucine loading in the diagnosis of 2-methylacetyl-CoA thiolase deficiency. J Inher Metab
Dis 1991;14:63-74.
4. Arnold GL, Vladutiu CJ, Kirby RS: Protein insufficiency and impaired growth in children with PKU. J Inher Metab
Dis 2000;23 (Suppl 1):A29.
5. Behrman RE, Kliegman RM, Arvin AA (eds): Nelson Textbook of Pediatrics, ed 15. Philadelphia: WB Saunders Co,
1996.-
6. Bennett MJ, Littlewood JM, MacDonald A, et al: A case of ß-ketothiolase deficiency. J Inher Metab Dis 1983;6:157.
7. Brown GK, Hunt SM, Mitchell DK, Danks DM: Profound neurological illness, relieved by protein restriction, in a
baby with a transient disturbance in the metabolism of ingested isoleucine. Eur J Pediatr 1987;146:363-369.
8. Calomme MR, Vanderpas JB, Francois B, et al: Thyroid function parameters during a selenium repletion/depletion
study in phenylketonuric subjects. Experientia 1995;51:1208-1215.
9. Cromby CH, Manning NJ, Pollitt, et al: 6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and
in two children with an unexplained recurrent ketoacidaemia. J Inher Metab Dis 1994;17:81-84.
10. Daum RS, Lamm PH, Mamer OA, Scriver CR: A "new" disorder of isoleucine catabolism. Lancet
1971;2:1289-1290.
11. Daum RS, Scriver CR, Mamer OA, et al: An inherited disorder of isoleucine catabolism causing accumulation of
α-methylacetoacetate and α-methyl-ß-hydroxybutyrate, and intermittent metabolic acidosis. Pediatr Res
1973;7:149-160.
12. Elsas LJ, Acosta PB: Nutrition support of inherited metabolic diseases. In Shils ME, et al (eds): Modern Nutrition in
Health and Disease, ed 9. Baltimore: Williams & Wilkins, 1999, pp 1003-1056.
13. Food and Nutrition Board, Committee on Dietary Allowances: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989.
14. Gompertz D, Saudubray JM, Charpentier C, et al: A defect in L-isoleucine metabolism associated with α-methyl-ß-
hydroxybutyric acid and α-methylacetoacetic aciduria: Quantitative in vivo and in vitro studies. Clin Chim Acta
1974;57:269-281.
15. Gropper S, Acosta PB: Effect of simultaneous ingestion of L-amino acids and whole protein on plasma amino acid
concentrations and urea nitrogen in humans. JPEN 1991;15:48-53.
16. Gropper SS, Gropper DM, Acosta PB: Plasma amino acid response to ingestion of L-amino acids and whole
protein. J Pediatr Gastroenterol Nutr 1993;16:143-150.
17. Halvorsen S, Stokke O, Jellum E: A variant form of 2-methyl-3-hydroxybutyric and 2-methylacetoacetic aciduria.
Acta Paediatr Scand 1979;68:123-128.
18. Henry CG, Strauss AW, Keating JP, Hillman RE: Congestive cardiomyopathy associated with ß-ketothiolase
deficiency. J Pediatr 1981;99:754-757.
19. Herrmann ME, Broesicke HG, Keller M, et al: Dependence of the utilization of a phenylalanine-free amino acid
mixture on different amounts of single dose ingested. A case report. Eur J Pediatr 1994;153:501-503.
20. Hillman RE, Keating JP: Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome."
Pediatrics 1974;53:221-225.
21. Hiyama K, Sakura N, Matsumoto T, Kuhara T: Deficient beta-ketothiolase activity in leukocytes from a patient with
2-methylacetoacetic aciduria. Clin Chim Acta 1986;155:189-194.
22. Jones BJM, Lees R, Andrews J, et al: Comparison of an elemental and polymeric enteral diet in patients with
normal gastrointestinal function. Gut 1983;24:78-84.
23. Keating JP, Fergin RD, Tenenbaum SM, Hillman RE: Hyperglycinemia with ketosis due to a defect in isoleucine
metabolism: A preliminary report. Pediatrics 1972;50:890-895.
24. Leverton RM, Johnson N, Dazur J, Ellison J: Amino acid requirements of young adults. In Albanese AA (ed):
Protein and Amino Acid Nutrition. New York: Academic Press, 1959.
25. MacLean W, Graham G: Pediatric Nutrition in Clinical Practice. Menlo Park, Calif: Addison-Wesley Publishing Co,
1982.
26. Merinero B, Perez-Cerda C, Garcia MJ, et al: ß-ketothiolase deficiency: Two siblings with different clinical
conditions. J Inher Metab Dis 1987;10 (Suppl 2):276-278.
27. Middleton B, Bartlett K, Romanos A, et al: 3-Ketothiolase deficiency. Eur J Pediatr 1986;144:586-589.
28. Middleton B, Gray RGF, Bennett MJ: Two cases of ß-ketothiolase deficiency: A comparison. J Inher Metab Dis
1984;7 (Suppl 2):131-132.
29. Ohkohchi N, Andoh T, Ohi R, Mori S: Defined formula diets alter characteristics of the intestinal transport of amino
acids and peptides in growing rats. J Pediatr Gastroenterol Nutr 1990;10:490-496.
Intact protein contains from 0.3% to 5.0% of the essential amino acid methionine (MET) (33). Some
dietary MET is used by the body for tissue protein synthesis, but most is utilized through the
transsulfuration pathway (Figure G). The first step in the transsulfuration pathway is synthesis of
S-adenosylmethionine (SAM), a reaction catalyzed by methionine-S-adenosyltransferase (MAT).
Impaired MAT activity results in hypermethioninemia and variable clinical expression from sulfurous
breath odor to mental retardation. Biologically important compounds that obtain their methyl group
from SAM include creatine, choline and phosphatidylcholine, methylated DNA and RNA, and
epinephrine. S-adenosylhomocysteine is an intermediary product in the transsulfuration pathway and
is hydrolyzed to homocysteine (27).
Tetrahydrofolate ATP
5,10-Methylene
5-Methyltetra-
tetrahydrofolate hydrofolate
homocysteine Methionine-S-adenosyltransferase
methyl- Dimethylglycine (MAT)
5,10-Methylene
tetrahydrofolate transferase
reductase CH3-B 12
Betaine-homocysteine
5-Methyltetrahydrofolate methyltransferase
Betaine
S-Adenosylmethionine
Choline
‡ ‡
Homocystine Homocysteine
C. CYS
1. Calculate approximate amount of CYS provided by infant formula with iron, human milk,
beikost, whole cow's milk, or table foods (Table 8-2, p 148) required to fill MET prescription.
2. Calculate amount of CYS supplied by Hominex (Table 8-2, p 148) required to fill protein
prescription.
3. Added together, values calculated in C1 and C2 should fall within range of CYS intake
recommended in Table 8-1, p 148.
4. Add supplemental L-CYS (Appendix 26, p A-28) only if plasma CYS concentration is below
normal
a. Mix weighed amount of L-CYS with boiled, cooled water to yield 10 mg/100 mL
(eg, 1.0 mg L-CYS with enough water to yield 100 mL).
b. Refrigerate suspension in sterilized, closed container until used. Discard unused
suspension after 1 week, if not frozen.
c. Shake well before using. Measure L-CYS suspension into medical food mixture with
disposable syringe.
1) L-cystine is not very soluble in water (11 mg/100 mL).
D. Folate
1. Administer in 3 equal doses daily.
a. A prescription is required for folic acid when given in excess of 400 µg/day.
2. Crush folic acid tablet and mix prescribed dose with applesauce or other fruit purées.
E. Energy
1. Calculate energy provided by infant formula with iron, human milk, beikost, or table foods and
Hominex (Table 8-2, p 148) required to fill MET and protein prescriptions.
2. Subtract amount determined above from energy prescription.
3. Provide any remaining prescribed energy with Polycose ® Glucose Polymers powder
(23 kcal/Tbsp, 3.8 kcal/g) or liquid (2 kcal/mL) (Appendix 9, p A-9); Pro-Phree ® Protein-Free
Energy Module With Iron, Vitamins & Minerals (Appendix 11, p A-10); sugar (48 kcal/Tbsp); or
Free Foods B (Table 8-2, p 148), depending on age of patient.
a. Do not use corn syrup or table sugar for infants because of osmolarity they yield (25).
b. Do not use honey for infants because it may contain botulinum toxin (44).
F. Betaine (Appendix 26, p A-28)
1. Mix with medical food mixture to administer.
G. Fluid and Mixing Instructions
1. Add sufficient boiled, cooled water to infant formula or human milk, Hominex, carbohydrate (if
needed), and L-CYS suspension (if needed) to yield prescribed volume. Tap water may
replace boiled, cooled water when preparing Hominex for older infants, children, and adults.
2. Mix with sterilized blender at lowest speed for no longer than 3 to 4 seconds. Excess mixing
may destabilize emulsion. May also be mixed in sterilized, tightly closed container by
shaking vigorously for 10 to 12 seconds.
3. Refrigerate in sterilized, closed containers until used. Discard unused portion 24 hours after
mixing because of nutrient loss.
B. Osmolarity
1. If concentration of prescribed medical food mixture is > 24 kcal/fl oz, determine if osmolarity
is in acceptable range.
a. Determine osmolarity by laboratory analysis or use mathematical formula given in
Appendix 18, p A-20.
b. Osmolarity per gram of Hominex is listed in Appendix 19, p A-21.
2. If osmolarity is > 450 mosm/L for infants, > 750 mosm/L for children, > 1,000 mosm/L for
adults, or greater than tolerated by patient, increase water content of prescribed medical food
mixture and recalculate its osmolarity (24, 25, 41).
C. Potential Renal Solute Load
1. Dehydration will result if renal solute load is greater than renal-concentrating ability of patient.
2. If concentration of medical food mixture prescribed is > 24 kcal/fl oz, estimate its potential
renal solute load.
a. This step is important to prevent dehydration of infants who may have renal-concentrating
capacity as low as 600 mosm/L.
b. Upper limit of renal solute load for neonates is approximately 1,100 mosm/L (39).
3. A method for estimating potential renal solute load is given in Appendix 20, p A-22.
4. If potential renal solute load is excessive, increase water content of medical food mixture and
recalculate.
X. Sample Prescriptions
A. Example 1
Establish and fill prescription for 1-month-old infant weighing 4 kg using Recommended Daily
Nutrient Intakes from Table 8-1, p 148 and nutrient contents from Table 8-2, p 148.
1. Establish prescription.
MET 15 mg/kg x 4 kg = 60 mg/day
CYS1 300 mg/kg x 4 kg = 1,200 mg
Folate = 500 µg
Protein 3.5 g/kg x 4 kg = 14 g
Energy 120 kcal/kg x 4 kg = 480 kcal
Fluid 150 mL/kg x 4 kg = 600 mL
Betaine 1g x 4 kg = 4g
1
Add only if plasma CYS concentration is below normal.
2. Fill prescription.
Medical Food Mixture Measure MET CYS Protein Energy
(mg) (mg) (g) (kcal)
Hominex-1 78 g 0 351 11.7 374
Similac With Iron Ready to Feed 171 mL 60 32 2.4 116
1 2
L-Cystine 82 mL 0 820 0.0 0
Add water to make 600 mL (20 fl oz).
C. Example 3
Establish and fill prescription for 9-year-old child weighing 25 kg using Recommended Daily
Nutrient Intakes from Table 8-1, p 148, and nutrient contents from Table 8-2, p 148.
1. Establish prescription.
MET 150 mg/day
CYS1 2,500 mg (2.5 g)
Folate 1 mg
Protein 40 g
Energy 2,400 kcal
Fluid 2,400 mL
Betaine 8g
1
Add only if plasma CYS concentration is below normal.
Age Nutrient
MET1,2 CYS2 Protein3,4 Energy3,4 Fluid5
(mg/kg) (mg/kg) (g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 15 - 30 300 3.50 - 3.00 120 (145 - 95) 150 - 125
3 to < 6 mo 10 - 25 250 3.50 - 3.00 115 (145 - 95) 160 - 130
6 to < 9 mo 10 - 25 200 3.00 - 2.50 110 (135 - 80) 145 - 125
9 to < 12 mo 10 - 20 200 3.00 - 2.50 105 (135 - 80) 135 - 120
Women
11 to < 15 yr 6 - 14 50 - 150 > 50.0 2,200 (1500 - 3000) 1,500 - 3,000
15 to < 19 yr 6 - 12 25 - 125 > 55.0 2,100 (1200 - 3000) 1,200 - 3,000
> 19 yr 4 - 10 25 - 100 > 60.0 2,100 (1400 - 2500) 1,400 - 2,500
Men
11 to < 15 yr 6 - 14 50 - 150 > 55.0 2,700 (2000 - 3700) 2,000 - 3,700
15 to < 19 yr 6 - 16 25 - 125 > 65.0 2,800 (2100 - 3900) 2,100 - 3,900
> 19 yr 6 - 15 25 - 100 > 70.0 2,900 (2000 - 3300) 2,000 - 3,300
1
Initiate prescription with lowest value for patient's age. Modify prescription based on frequently obtained plasma values
and growth in infants and children and frequently obtained plasma values and weight maintenance in adults.
2
From references 1, 14, 23.
3
From reference 15.
4
Based on ideal body weight in kilograms.
5
From reference 9. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid to
children and adults for each kcal ingested.
TABLE 8-2. Serving Lists For MET-Restricted Diets: Average Nutrient Content Per Serving1
Cereals, Dry
Barley 9 2 Tbsp + 1 tsp 20 31 1.1 34
Mixed 9 2 Tbsp + 1 tsp 19 28 0.9 35
Oatmeal 7 1 Tbsp + 2 tsp 20 40 1.1 28
Oatmeal/banana 12 3 Tbsp 20 35 1.4 48
Oateal/mixed fruit 10 2 Tbsp + 2 tsp 20 38 1.1 42
Rice 8 2 Tbsp 19 19 0.7 30
Rice/apple 12 3 Tbsp 20 20 0.7 47
Rice/apple bits 11 2 Tbsp + 2-3/4 tsp 20 20 0.8 43
Rice/banana 10 2 Tbsp + 2 tsp 21 23 0.7 39
Rice/mixed fruit 8 2 Tbsp 19 19 0.6 32
Cereals, Jarred
1st Foods ®
Oatmeal 57 1/4 cup 20 33 1.0 31
2nd & 3rd Foods ®
Banana/oatmeal/peach 106 7 1/2 Tbsp 20 28 1.2 78
Mixed/apples/bananas 100 7 Tbsp 20 36 1.2 76
Mixed/applesauce/banana 100 7 Tbsp 20 36 1.0 86
Oatmeal/apples/cinnamon 90 6 Tbsp + 1 tsp 20 38 1.0 60
Oatmeal/applesauce/banana 91 6 Tbsp + 1 tsp 20 38 1.2 76
Rice/applesauce/banana 80 5 Tbsp + 1-1/2 tsp 20 21 0.6 73
Vegetables
1st Foods ®
Peas 48 3 Tbsp + 1-1/2 tsp 20 18 1.4 24
Potatoes 133 9 Tbsp + 1 tsp 20 17 1.3 63
Sweet potatoes 105 7 Tbsp + 1 tsp 20 23 1.2 68
2nd and 3rd Foods ®
Creamed corn 43 3 Tbsp 20 13 0.8 27
Creamed spinach 26 2 Tbsp 20 12 0.8 12
Garden vegetables 58 1/4 cup 20 18 1.2 22
Mixed vegetables 90 6 Tbsp + 1 tsp 20 18 1.2 32
Peas 52 3 Tbsp + 1-1/2 tsp 20 20 1.6 25
Sweet potatoes, 2nd Foods 96 6 Tbsp + 2 tsp 20 20 1.0 60
Sweet potatoes, 3rd Foods 84 7 Tbsp + 1 tsp 20 16 0.8 50
FRUITS/JUICES
Fruit Desserts
Guava 125 8 Tbsp + 2 tsp 5 3 0.4 88
Mango 100 7 Tbsp 5 3 0.4 74
Papaya 125 8 Tbsp + 2 tsp 5 3 0.4 80
Peach cobbler dessert, 2nd Foods 50 3 Tbsp + 1-1/2 tsp 5 3 0.2 38
Peach cobbler dessert, 3rd Foods 56 1/4 cup 5 5 0.3 43
Fruit Dices, Graduates™
Mixed fruit 125 ND 5 6 0.4 61
Peaches 83 ND 5 7 0.4 41
Fruit/Vegetable Juices
Apple/carrot 167 5-1/3 fl oz 5 3 0.3 72
Apple/sweet potato 100 3-1/4 fl oz 5 5 0.3 52
White grape juice 100 3.2 fl oz 5 5 0.3 65
Tender Harvest ™
Pear/wild blueberry 167 11 Tbsp + 2 tsp 5 8 0.7 102
Tropical fruit blend 62 4 Tbsp + 1 tsp 5 5 0.4 46
Apple/sweet potato 125 8 Tbsp + 2 tsp 5 4 0.4 79
Pears/winter squash 31 2 Tbsp + 1-1/2 tsp 5 3 0.3 16
VEGETABLES
1st Foods ®
Carrots 100 7 Tbsp 10 10 0.9 35
Green beans 33 2 Tbsp + 1 tsp 10 8 0.4 10
Squash 59 1/4 cup 10 10 0.5 20
2nd Foods ®
Carrots 100 7 Tbsp 10 10 0.8 30
Green beans 50 3 Tbsp + 1-1/2 tsp 10 20 0.6 15
Squash 53 3 Tbsp + 2 tsp 10 11 0.4 17
3rd Foods ®
Carrots 56 1/4 cup 10 6 0.4 16
Green beans/rice 42 3 Tbsp 10 10 0.5 18
Peas/rice 26 1 Tbsp + 2 tsp 10 10 0.6 14
Squash 100 7 Tbsp 10 11 0.8 33
FREE FOODS A
Fruit Dices
Apples 50 ND 1 2 0.1 24
Pears 33 ND 1 1 0.1 18
Fruit Juices
Apple juice 248 8 fl oz 1 1 0.1 124
Apple/cranberry juice 100 3.2 fl oz 1 1 0.1 44
Apple/cherry juice 124 4 fl oz 1 1 0.3 62
Apple/grape juice 124 4 fl oz 1 1 0.1 64
Apple/prune juice 124 4 fl oz 1 1 0.1 32
Banana strawberry juice medley 100 3.2 fl oz 1 1 0.1 58
ND = no data.
Level Level
1 tsp = 1/3rd Tbsp = 4.8 g
1 Tbsp = 1/16th cup = 14.3 g
1/4 cup = 4 Tbsp = 57.2 g
1/3 cup = 5-1/3rd Tbsp = 76.2 g
1/2 cup = 8 Tbsp = 114.3 g
2/3 cup = 10 2/3rd Tbsp = 152.5 g
3/4 cup = 12 Tbsp = 171.5 g
1 cup = 16 Tbsp = 228.6 g
Grains
Corn
cooked (cream style) 53 3 Tbsp + 1 tsp 19 8 0.9 38
meal 13 1 Tbsp + 1 tsp 21 23 1.0 46
on the cob (medium ear) 32 1/2 ear 21 8 1.0 29
Rice, prepared
brown 33 3 Tbsp 18 17 0.8 39
fried 28 2 Tbsp 18 14 0.7 36
pilaf 25 1 Tbsp + 2 tsp 19 20 1.0 38
Rice-A-Roni ® 36 2 Tbsp + 1 tsp 21 20 1.1 47
Spanish 51 3 Tbsp + 1 tsp 19 16 0.9 44
white 39 3 Tbsp 18 15 0.8 42
instant 40 1 Tbsp + 2 tsp 20 17 0.9 43
Pasta, cooked
Macaroni 24 3 Tbsp 22 26 1.2 36
Noodles 30 3 Tbsp 21 24 1.2 37
Ramen ® Noodles 20 2 Tbsp 18 22 1.1 45
Spaghetti 21 2 Tbsp + 1 tsp 19 23 1.1 32
Miscellaneous
Chow mein noodles 11 3 Tbsp 19 22 1.1 56
Croutons 8 1 Tbsp + 1/2 tsp 19 23 1.2 41
Flour
all purpose 11 1 Tbsp + 1-1/2 tsp 20 24 1.1 39
cake 14 3 Tbsp + 1 tsp 19 23 1.1 53
whole wheat 10 1 Tbsp + 1 tsp 22 29 1.3 33
Succotash 28 2 Tbsp + 1 tsp 19 15 1.4 32
Snack Foods
Barnum's Animal Crackers ® 16 6 crackers 18 22 1.0 67
Breadsticks 9 1-1/2 breadsticks 19 23 1.1 35
Cookies
chocolate chip 24 2 cookies 19 22 1.3 124
fig bar 40 2-1/2 cookies 20 31 1.6 143
gingersnap 21 3 cookies 20 24 1.2 88
oatmeal raisin 14 1 cookie 19 20 0.9 64
Oreo ® 27 2-1/2 cookies 19 24 1.4 133
sugar butter 20 1-1/2 cookies 21 25 1.2 83
Sugar Wafer (Nabisco ®) 28 5 wafers 18 22 1.1 133
vanilla wafer 20 5 wafers 19 23 1.1 92
Crackers
Goldfish ®, original 17 28 crackers 20 21 1.2 82
graham (2" x 2") 14 2 crackers 20 24 1.1 54
Melba toast 9 1-1/2 pieces 20 24 1.2 31
Ritz ® 17 5 crackers 19 23 1.2 83
Ritz Bits ®, cheese 11 15 crackers 20 19 1.0 52
Rykrisp ® 11 1-3/4 pieces 20 23 1.1 39
saltine 12 4 crackers 19 23 1.1 52
Triscuits ® 14 3 crackers 20 24 1.2 63
Waverly ® 14 2 crackers 17 21 1.1 69
Wheat Thins ® 16 9 crackers 20 24 1.2 78
Ding Dongs ® 48 1 piece 20 24 1.4 219
Doodads, original 12 3 Tbsp + 1 tsp 19 22 1.3 58
Doritos ® 18 10 chips 19 22 1.3 88
Fritos ® 18 9 chips 20 18 1.2 98
Ho Ho's ® 28 1 piece 21 22 1.1 119
Marshmallow Puff 38 2 pieces 20 22 1.3 162
FATS
FRUITS
Fruits are raw unless otherwise noted. Weight of raw fruits is only for parts that can be eaten. Drain canned, cooked, and frozen fruits before
measuring or weighing.
Apricots
canned, heavy syrup 129 1/2 cup halves 4 3 0.7 107
diced 78 1/2 cup 5 3 1.1 37
dried
cooked, diced 83 1/3 cup 5 3 1.1 70
halves 35 10 6 4 1.3 83
VEGETABLES
Vegetables are raw unless otherwise noted. Weight of raw vegetables is only for parts that can be eaten. Drain canned, cooked, and frozen
fruits before measuring or weighing.
Soups, Campbell's ®, Condensed. Weigh or measure before diluting and dilute with water only.
Asparagus, Cream of 31 2 Tbsp 10 8 0.6 22
Beef Broth 15 1 Tbsp 9 4 0.3 2
Celery, Cream of 39 2 Tbsp + 1-1/2 tsp 9 6 0.5 28
Chicken
Cream of 16 1 Tbsp 10 6 0.4 15
Gumbo 31 2 Tbsp 11 4 0.7 14
FREE FOODS A
Limit to prescribed number of servings.
Desserts
Apple butter 20 1 Tbsp 1 1 0.1 37
Fruit ices 12 1 Tbsp 1 1 0.0 16
Fruit juice bars 14 1 bar 1 1 0.2 55
Fruit Roll-Ups ® 26 1 piece 1 1 0.1 100
Fun Fruits 16 1 Tbsp 2 2 0.2 65
Gelatin dessert, prepared 11 1/4 cup 1 0 0.1 8
M&M ® plain candy 1 1 piece 1 1 0.1 4
Marshmallow, large 8 1 1 0 0.2 26
Mocha Mix, frozen vanilla 8 1 Tbsp 1 2 0.1 17
Fruits/Juices
Apples
canned w/ sugar 67 1/3 cup 1 1 0.1 45
dried, diced
cooked 64 1/4 cup 1 2 0.1 36
uncooked 11 2 Tbsp 1 1 0.1 26
whole 69 1/2 fruit 1 2 0.1 41
Applesauce w/ sugar 64 1/4 cup 1 1 0.1 48
Cranberry sauce w/ sugar 35 2 Tbsp 1 1 0.1 52
Lemon juice 31 1 fl oz 1 1 0.1 6
Lime juice 92 3 fl oz 1 2 0.2 19
Marmalade 13 2 tsp 1 1 0.1 33
Pie filling
apple 81 1/3 cup 1 2 0.1 89
cherry 26 1 Tbsp + 2 tsp 1 1 0.1 27
peach 17 1 Tbsp 1 1 0.1 18
strawberry 83 1/3 cup 1 3 0.4 90
Papaya nectar 94 3 fl oz 1 1 0.2 54
Pear nectar 94 3 fl oz 1 1 0.1 56
Tangerine juice w/ sugar 62 2 fl oz 1 3 0.3 31
Miscellaneous
Chocolate drink powder (Quik ®) 3 1 tsp 1 1 0.1 11
FREE FOODS B
These foods contain little or no MET or CYS. They may be used as desired if patient is not overweight and if they do not depress appetite for
prescribed foods.
Beverages
Apple juice 62 2 fl oz 0 0 0.0 29
Desserts/Sweets
Candies
candy corn 16 10 pieces 0 0 0.0 58
gumdrops 16 8 pieces 0 0 0.0 56
hard candy 15 3 pieces 0 0 0.0 58
jelly beans 14 5 pieces 0 0 0.0 51
Frosting, strawberry and vanilla 16 1 Tbsp 0 0 0.0 69
Fruit bars, frozen
raspberry 74 1 bar 0 4 0.6 60
strawberry 74 1 bar 0 0 0.0 60
Fruit juice bars 52 1 bar 0 4 0.6 43
Jams/preserves 20 1 Tbsp 0 1 0.1 54
Jelly 20 1 Tbsp 0 0 0.0 54
Lemon pudding, canned (Hunt's ®) 121 1 can 0 0 0.0 151
Molasses 21 1 Tbsp 0 0 0.0 48
Popsicle ®, twin 128 1 popsicle 0 0 0.0 95
Sugar
brown 14 1 Tbsp 0 0 0.0 52
powdered 8 1 Tbsp 0 0 0.0 31
table 12 1 Tbsp 0 0 0.0 48
Syrup
corn 20 1 Tbsp 0 0 0.0 58
maple 20 1 Tbsp 0 0 0.0 50
table 20 1 Tbsp 0 0 0.0 50
Miscellaneous
Oil
olive 13 1 Tbsp 0 0 0.0 119
vegetable 14 1 Tbsp 0 0 0.0 120
Richwhip ® liquid 14 1 Tbsp 0 0 0.0 40
Vinegar/oil salad dressing 16 1 Tbsp 0 0 0.0 70
1
MET calculated as 1.4% of protein and CYS as 1.2% of protein.
2
See Appendix 12, p A-11, for nutrient composition of very-low-protein foods.
1
Indicate if mg/dL or µmol/L.
2
Indicate if serum or erythrocyte.
REFERENCES
1. Acosta PB: The contribution of therapy of inherited amino acid disorders to knowledge of amino acid requirements.
In Wapnir RA (ed): Congenital Metabolic Diseases: Diagnosis and Treatment. New York: Marcel Dekker Inc,
1985, 115-135.
2. Acosta PB: Growth, tolerance, plasma amino acids, and plasma biochemistries of infants with cystathionine-ß-
synthase deficiency (B-6 nonresponsive) or phenylalanine hydroxylase deficiency. Columbus OH: Ross
Laboratories, 1992.
3. Acosta PB, Yannicelli S: Nutrition support of inherited disorders of amino acid metabolism. Part 2. Top Clin Nut
1995;10:48-72 (Review).
4. Acosta PB, Yannicelli S: Protein intake affects phenylalanine requirements and growth of infants with
phenylketonuria. Acta Paediatr 1994;407 (Suppl):66-67.
5. Albin RL, Albers JW, Greenberg HS, et al: Acute sensory neuropathy-neuronopathy from pyridoxine overdose.
Neurology 1987;37:1729-1732.
6. Arnold GL, Vladutiu CJ, Kirby RS: Protein insufficiency and impaired growth in children with PKU. J Inher Metab
Dis 2000;23 (Suppl 1):29A.
7. Berardelli A, Thompson PD, Zaccaqnini M, et al: Two sisters with generalized dystonia associated with
homocystinuria. Mov Disord 1991;6:163-165.
8. Berg WVd, Verbrook FD, Bos PJM: Homocystinuria presenting as longstanding thromboembolic disease. Br J
Ophthalmol 1990;74:696-697.
9. Behrman RE, Kliegman RM, Arvin AA: Nelson Textbook of Pediatrics, ed 15. Philadelphia: WB Saunders Co,
1996.
10. Calomme MR, Vanderpas JB, Francois B, et al: Thyroid function parameters during a selenium repletion/depletion
study in phenylketonuric subjects. Experientia 1995;51:1208-1215.
11. Carey MC, Fennelly JJ, Fitzgerald O: Homocystinuria II. Subnormal serum folate levels, increased folate clearance
and effects of folic acid therapy. Am J Med 1968;45:26-31.
12. Celermayer DS, Sorensen, K, Ryalls M, et al: Impaired endothelial function occurs in the systemic arteries of
children with homozygous homocystinuria but not in their heterozygous parents. J Am Coll Cardiol
1993;22:854-858.
13. Dudman NPB, Wilcken DEL: Increased plasma copper in patients with homocystinuria due to
cystathionine-ß-synthase deficiency. Clin Chim Acta 1983;127:105-113.
14. Elsas LJ, Acosta PB: Nutrition support of inherited metabolic diseases. In Shils ME, et al (eds): Modern Nutrition in
Health and Disease, ed 9. Baltimore: Williams & Wilkins, 1999, pp 1003-1056.
15. Food and Nutrition Board, Committee on Dietary Allowances: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989.
16. Gropper S, Acosta PB: Effect of simultaneous ingestion of L-amino acids and whole protein on plasma amino acid
and urea nitrogen concentrations in humans. JPEN 1991;15:48-53.
17. Gropper SS, Gropper DM, Acosta PB: Plasma amino acid response to ingestion of L-amino acids and whole
protein. J Pediatr Gastroent Nutr 1993;16:143-150.
18. Herbert VD, Das KC: Folic acid. In Shils ME, et al (eds): Modern Nutrition in Health and Disease, ed 9.
Philadelphia: Williams & Wilkins, 1999, pp 433-448.
19. Herrmann ME, Broesicke HG, Keller M, et al: Dependence of the utilization of a phenylalanine-free amino acid
mixture on different amounts of single dose ingested. A case report. Eur J Pediatr 1994;153:501-503.
20. Ilan Y, Eid A, Rivkind AI, et al: Gastrointestinal involvement in homocystinuria. J Gastroent Hepat 1993;8:60-62.
21. Kempster PA, Brenton DP, Gale AN, Stern GM: Dystonia in homocystinuria. J Neurol Neurosurg Psychiatry
1988;51:859-862.
22. Jones BJM, Lees R, Andrews J, et al: Comparison of an elemental and polymeric enteral diet in patients with
normal gastrointestinal function. Gut 1983;24:78-84.
23. Leverton RM, Johnson N, Dazur J, Ellison J: Amino acid requirements of young adults. In Albanese AA (ed):
Protein and Amino Acid Nutrition. New York: Academic Press, 1959.
24. MacLean W, Graham G: Pediatric Nutrition in Clinical Practice. Menlo Park, Calif: Addison-Wesley Publishing Co,
1982.
25. Martin SB, Acosta PB: Osmotic behaviors of components of chemically-defined formulas. J Pediatr Perinat Nutr
1987;1:1-17.
26. Mpofu C, Whitehouse C, Fowler B, Wraith JE: No sensory neuropathy during pyridoxine treatment in
homocystinuria. Arch Dis Child 1991;66:1081-1082.
27. Mudd SH, Levy HL, Kraus J: Disorders of transsulfuration. In Scriver CR, et al (eds): The Metabolic and Molecular
Bases of Inherited Metabolic Disease, ed 8. New York: McGraw-Hill Medical Publishing Division, 2001,
pp 2007-2056.
28. Mudd SH, Skovby F, Levy H, et al: The natural history of homocystinuria due to cystathionine-ß-synthase
deficiency. Am J Hum Genet 1985;37:1-31.
Figure H. Lysine and tryptophan metabolism in 2-ketoadipic aciduria and glutaric aciduria type I
B. 2-Ketoadipic Aciduria
2-Ketoadipic aciduria (KAA) results from defect in activity of 2-ketoadipic acid dehydrogenase
(KAD), which is required for metabolism of essential LYS and TRP. Defect in KAD results in
168 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
accumulation of plasma LYS and TRP and 2-aminoadipic, 2-ketoadipic, and 2-OH-adipic acids in
biologic fluids. Symptoms include hypotonia, intermittent metabolic acidosis, and motor and
© 2001 Ross Products Division Glutaric Aciduria Type I or 2-Ketoadipic Aciduria 169
developmental delay (50). One patient has been described with psychomotor retardation and
seizures with abnormal electroencephalograms (15). Actual incidence of KAA is not known, and
few patients have been reported.
No clear correlation has been found between the metabolic defect and clinical symptoms
in patients with KAA (24, 50). Large phenotypic heterogeneity in this disorder and findings of
asymptomatic patients suggest that KAA may be a benign defect (45). However, one patient
showed clinical improvement after diet intervention (24).
C. Clinical Evaluation
1. Glutaric aciduria type I.
a. Diagnostic studies should be conducted in any child who has following signs within first
18 months of life (24, 29):
1) Macrocephaly (5, 30).
2) Abnormal CT scan or magnetic resonance imaging (MRI) (5, 7, 24).
3) Abnormal movement disorder including spasticity and choreoathetosis.
4) Ketosis, vomiting, hepatomegaly, coma, and convulsions.
5) Metabolic acidosis.
6) Hypoglycemia (14).
7) Renal cysts.
2. 2-Ketoadipic aciduria.
a. Diagnostic studies should be conducted in any child who has following signs within first
2 years of life (24).
1) Hypotonia.
2) Motor and developmental delay (49, 50).
3) Psychomotor retardation and seizures (15).
4) Metabolic acidosis.
170 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
B. Medical Care
1. Implement standard medical management.
2. Intravenous L-carnitine (100 to 300 mg/kg), glucose infusion, and bicarbonate therapy have
been suggested to treat acute crises (5, 29).
C. Patients With Acute Metabolic Acidosis and Neurologic Depression
1. Begin oral or nasogastric feeds free of LYS and TRP with sufficient protein and energy to
promote anabolism.
a. Provide recommended protein (Table 9-1, p 176) with Glutarex (Table 9-2, p 177).
b. Provide remaining prescribed energy with Pro-Phree ® Protein-Free Energy Module With
Iron, Vitamins & Minerals (Appendix 11, p A-10) or Polycose® Glucose Polymers
(3.8 kcal/g) (Appendix 9, p A-9).
c. When plasma concentrations of LYS and TRP approach lower limit of normal and urine
contains no glutaric, 3-OH-glutaric, glutaconic, 2-ketoadipic, 2-hydroxyadipic, or
2-aminoadipic acids, begin adding LYS and TRP using Similac ® With Iron Infant
Formula, beikost, or table foods (Table 9-3, p 178).
Note: Some patients do not excrete glutaric acid during acute crises (5, 24, 29).
2. L-carnitine therapy is essential during acute illness. Administration should be considered if
insufficient Glutarex is provided to supply prescribed oral carnitine.
a. Recommended L-carnitine intake is between 100 and 300 mg/kg (Appendix 26, p A-28).
3. If parenteral amino acid solutions are indicated, see Appendix 26, p A-28.
4. See references 5 and 42 for more information on treatment during acute intermittent illness.
© 2001 Ross Products Division Glutaric Aciduria Type I or 2-Ketoadipic Aciduria 171
2. LYS and TRP requirements.
a. Are not well-established because of limited clinical experience with these disorders.
b. Vary based on genotype and enzyme activity, which ranges from 0% to 10% of normal
(24, 32) in GA-I.
c. Vary in same patient, depending on:
1) Age.
2) Growth rate.
3) Adequacy of energy and protein intakes.
4) State of health.
3. Lowest values for age for LYS and TRP (Table 9-1, p 176) are suggested for initiating long-
term nutrition support.
4. Changing requirements of patients are determined by frequent monitoring of plasma LYS,
TRP, and glutaric acid concentrations and growth in infants and children, and plasma LYS,
TRP, and glutaric acid concentrations and weight in adults.
a. See Section X, Suggested Evaluation of Nutrition Support, p 172.
Warning: LYS and TRP deficiencies result in the following adverse effects:
LYS (60): Impaired weight gain and excessive urinary nitrogen excretion.
TRP: Impaired weight gain; increased plasma urea nitrogen; increased
plasma α-amino nitrogen; decreased plasma cholesterol concentration
(59), irritability, sleeplessness, and anorexia (5).
B. Protein
1. Prescribe, initially, amount greater than Recommended Dietary Allowances (RDAs) (22)
(Table 9-1, p 176).
2. Requirements may be greater than RDAs when L-amino acids supply majority of protein
equivalent as result of:
a. Rapid amino acid absorption (25).
b. Early and high peak of plasma amino acid concentrations after ingestion of meals where
large part of protein is supplied by L-amino acids (25).
c. Rapid catabolism of amino acids (27, 34, 57).
d. Possible decreased total amino acid absorption (44).
Warning: Long-term inadequate protein intake will result in failure to thrive in infants,
poor growth in children, weight loss in adults, low plasma transthyretin
concentrations, osteopenia, hair loss, and decreased LYS and TRP tolerance.
C. Energy
1. Prescribe amount that should support normal weight gain in infants and children and maintain
appropriate weight for height in adults (Table 9-1, p 176).
2. Requirements vary widely and may be greater than normal when L-amino acids supply
majority of protein equivalent (48).
3. Choreoathetosis, seizures, and intermittent febrile illness (5, 24, 31) may significantly increase
energy needs.
Warning: Inadequate energy intake may precipitate metabolic and neurologic crises;
failure to thrive in infants and weight loss in children and adults and
decreased LYS and TRP tolerance.
D. Fluid
1. Prescribe amount that will supply water requirements (Table 9-1, p 176). Under normal
circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid to children and
adults for each kcal ingested (6).
2. Requirements may be higher than recommended secondary to accompanying fever,
excessive perspiration, or presence of choreoathetosis or seizures (24, 29).
E. Oral L-Carnitine (29, 54, 62)
1. Prescribe amount that maintains normal plasma free carnitine concentrations.
2. The usual dose is 100 mg/kg/day during long-term care (29, 62).
a. Excessive carnitine may cause gastrointestinal distress and fishy odor.
172 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
F. Riboflavin (GA-I only)
1. A small percentage of patients may respond to pharmacologic doses of riboflavin (10).
2. Prescribe a trial of 100 mg oral riboflavin daily (5).
G. Preformed Niacin
1. Restriction of TRP intake may require administration of 100% of RDA for age for niacin
equivalents (Appendices 13 and 14, pp A-14 and A-15), since restricted TRP may be
inadequate for de novo niacin synthesis.
174 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
2. If osmolarity is > 450 mosm/L for infants (37), > 750 mosm/kg H2O for children, >
1,000 mosm/L for adults (58), or greater than that tolerated by patient, increase water content
of prescribed medical food mixture and recalculate its osmolarity.
C. Potential Renal Solute Load
1. Dehydration will result if renal solute load is greater than renal-concentrating ability of patient.
2. If concentration of medical food mixture prescribed is > 24 kcal/fl oz, estimate its potential
renal solute load.
a. This step is important to prevent dehydration of infants who may have renal-concentrating
capacity as low as 600 mosm/L.
b. Upper limit of renal solute load for neonates is approximately 1,100 mosm/L (56).
3. A method for estimating potential renal solute load is given in Appendix 20, p A-22.
4. If potential renal solute load is excessive, increase water content of medical food mixture and
recalculate.
D. Drug and Nutrient Interactions
1. Monitor all possible drug and nutrient interactions.
2. Anticonvulsant therapy with Depakene ® (valproic acid) may result in gastrointestinal distress,
secondary carnitine deficiency (55), and hyperglycinemia (62).
© 2001 Ross Products Division Glutaric Aciduria Type I or 2-Ketoadipic Aciduria 175
B. Plasma Glutaric Acid Concentration
1. At presentation, measure daily until concentration is stabilized in treatment range.
2. Ongoing, measure twice monthly until patient is 12 months of age and monthly thereafter.
3. If equipment for determining plasma glutaric acid concentration is unavailable, see Table 9-4,
p 178, for provider of this service.
C. Urine Organic Acids
1. Initially, measure at presentation; then reevaluate 1 week after nutrition support is begun.
a. Urine organic acid levels are initially useful for diagnosis but do not reflect adequacy of
nutrition support as accurately as plasma concentrations of LYS, TRP, and glutaric acid.
D. Protein Status
1. Evaluate plasma albumin and transthyretin concentrations every 3 months until patient is
1 year of age and 6 months thereafter (Appendix 17, p A-18, for standards).
2. If plasma albumin or transthyretin concentration is below standard:
a. Increase prescribed protein by 5% to 10% and reevaluate plasma albumin or transthyretin
concentration in 1 month. If plasma LYS and TRP concentrations are in treatment range,
use Glutarex to increase protein.
b. Plasma albumin concentration may be in the normal range when plasma transthyretin
shows a clear deficiency (4).
c. If plasma albumin or transthyretin concentration continues below standard, repeat above
process until value is in normal range.
Warning: Hypoalbuminemia (< 3.5 g/dL) may increase effects of some skeletal muscle
relaxants and anticonvulsants (23).
E. Iron Status
1. Plasma ferritin concentration (8).
a. Evaluate at 6, 9, and 12 months of age and every 6 months thereafter (Appendix 17,
p A-18, for standards).
b. If plasma ferritin concentration is below standard:
1) Increase iron intake to 4 mg/kg with supplements (ferrous sulfate).
2) Evaluate plasma ferritin concentration monthly on increased iron intake.
3) Continue iron supplements until plasma ferritin concentration is in normal range.
2. Complete blood count.
a. Evaluate hemoglobin and hematocrit concentrations at diagnosis and at 6, 9, and
12 months of age and every 6 months thereafter (Appendix 17, p A-18, for standards).
F. Plasma Free Carnitine Concentration
1. Plasma free carnitine should be evaluated as necessary to maintain normal concentration
(≥ 30 µmol/L).
G. Riboflavin
1. Effectiveness of riboflavin supplementation may be assessed by quantitating urinary glutaric
acid concentrations on same dietary intake of LYS and TRP pre- and post-riboflavin
supplementation (5, 29).
H. Growth Status
1. Length/height and weight.
a. Measure monthly to 1 year, every 3 months to 4 years, and every 6 months thereafter.
Plot measurements on NCHS growth charts.
b. Maintain length/height and weight between 10th and 90th percentiles. Some normal
infants, children, and adults will fall above or below these percentiles.
2. If length/height or weight falls below usual growth channel:
a. Increase prescribed protein and energy by 5% to 10% and remeasure after 1 month.
b. If length/height or weight remains low, repeat above until usual growth channel is
achieved.
c. Neurologically compromised patients may have difficulty maintaining weight gain equal to
height or linear gain and require frequent monitoring to prevent failure to thrive. Nutrition
176 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
intervention may include prescribing an energy intake greater than RDA for age and use
of gastrostomy tube.
I. Nutrient Intake
1. Maintain records of food intake for 3 days immediately before each blood test (Appendices 24
and 25, pp A-26 and A-27).
2. Evaluate intakes of LYS, TRP, protein, and energy before each blood test.
3. Evaluate mineral and vitamin intakes after each diet change.
a. Appendix 23, p A-25, may be used to check adequacy of nutrients if computer program is
not available.
b. See Appendix 28, p A-29, for information about ordering software for diet evaluation.
J. Clinical Summary
1. A summary record of growth, laboratory, and nutrient intake data is useful for patient
management (Table 9-6, p 192).
© 2001 Ross Products Division Glutaric Aciduria Type I or 2-Ketoadipic Aciduria 177
2. Fill prescription.
Medical Food Mixture Measure LYS TRP L-Carnitine Protein Energy
(mg) (mg) (mg) (g) (kcal)
Glutarex-1 97 g 0 0 873 14.6 466
Similac With Iron Ready to Feed 372 mL 420 82 0 5.2 253
Add water to make 946 mL (32 fl oz).
B. Example 2
Establish and fill prescription for 7-year-old girl weighing 20 kg using Recommended Daily
Nutrient Intakes from Table 9-1, p 176, and nutrient contents from Tables 9-2 and 9-3, pp 177and
178.
1. Establish prescription.
LYS 35 mg/kg x 20 kg = 700 mg/day
TRP 10 mg/kg x 20 kg = 200 mg
L-Carnitine 100 mg/kg x 20 kg = 2,000 mg
Protein 40 g
Energy 2,400 kcal
Fluid 2,400 mL
Riboflavin (GA-I) 100 mg
2. Fill prescription.
Medical Food Mixture Measure LYS TRP L-Carnitine Protein Energy
(mg) (mg) (mg) (g) (kcal)
Glutarex-2 70 g 0 0 1,260 21.0 287
L-Carnitine 7.4 mL 0 0 740 0.0 0
Sugar 54 g (4.5 Tbsp) 0 0 0 0.0 216
Add water to make 840 mL (28 fl oz). Offer additional water ad libitum.
178 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
TABLE 9-1. Recommended Daily Nutrient Intakes (Ranges) for Infants, Children, and Adults With
Glutaric Aciduria Type I or 2-Ketoadipic Aciduria
Age Nutrient
1,2 2,3
LYS TRP Protein4 Energy4 Fluid5
(mg/kg) (mg/kg) (g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 80 - 100 10 - 20 3.50 - 3.00 120 (145 - 95) 150 - 125
3 to < 6 mo 70 - 90 10 - 15 3.50 - 3.00 115 (145 - 95) 160 - 130
6 to < 9 mo 60 - 80 10 - 12 3.00 - 2.50 110 (135 - 80) 145 - 125
9 to < 12 mo 50 - 70 10 - 12 3.00 - 2.50 105 (135 - 80) 135 - 120
Women
11 to < 15 yr 30 - 40 4-6 ≥ 50.0 2,200 (1500 - 3000) 2,200 (1500 - 3000)
15 to < 19 yr 20 - 30 3-5 ≥ 55.0 2,100 (1200 - 3000) 2,100 (1200 - 3000)
≥ 19 yr 10 - 20 3-4 ≥ 60.0 2,100 (1400 - 2500) 2,100 (1400 - 2500)
Men
11 to < 15 yr 30 - 40 4-6 ≥ 60.0 2,700 (2000 - 3700) 2,700 (2000 - 3700)
15 to < 19 yr 35 - 45 6-8 ≥ 65.0 2,800 (2100 - 3900) 2,800 (2100 - 3900)
> 19 yr 35 - 45 3-5 ≥ 65.0 2,900 (2000 - 3300) 2,900 (2000 - 3300)
1
Modified from references 1, 11, 12, 18, 21, 36, 44, 51, 60, 66, 68, 70.
2
Initiate therapy with lowest value for age range. Modify prescription based on frequently obtained blood and/or
plasma values and growth in infants and children and frequently obtained plasma values and weight
maintenance in adults.
3
Modified from references 19, 20, 21, 52, 59, 69.
4
Modified from reference 22.
5
Modified from reference 6. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid
to children and adults for each kcal ingested.
© 2001 Ross Products Division Glutaric Aciduria Type I or 2-Ketoadipic Aciduria 179
TABLE 9-2. Nutrient Composition of GLUTAREX ®-1 1, 3 and GLUTAREX ®-2 2, 3
180 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
1
TABLE 9-3. Serving Lists for LYS- and TRP-Restricted Diets: Average Nutrient Content per Serving
Isomil ® Soy Formula With Iron, Ready to Feed, 100 mL 1 100 21 1.66 68
1
Similac ® With Iron Infant Formula, Ready to Feed, 100 mL 113 22 1.40 68
Whole cow's milk, 100 mL 2 269 47 3.39 63
1
See Appendices 4 through 7, pp A-4 to A-7, for complete nutrient composition of infant formulas.
2
From reference 47. See Appendix 8, p A-8, for complete nutrient composition.
TABLE 9-4. Suppliers of Products and Services for Nutrition Support of Glutaric Aciduria Type I and
2-Ketoadipic Aciduria
Product/Service Provider
Oral riboflavin and thiamine Nature's Bounty, Inc.
90 Orville Drive
Bohemia, NY 117816
(800) 645-5412
(516) 567-9500
© 2001 Ross Products Division Glutaric Aciduria Type I or 2-Ketoadipic Aciduria 181
TABLE 9-5. Serving Lists for LYS- and TRP-Restricted Diets: Gerber ® Baby Foods (Beikost)
Cereals, Dry
Barley 7 1-3/4 Tbsp 29 11 0.9 27
Mixed 11 3 Tbsp 29 10 1.1 42
Oatmeal 5 1 Tbsp + 1 tsp 29 9 0.8 20
Oatmeal/banana 7 1-3/4 Tbsp 29 9 0.8 28
Oateal/mixed fruit 8 2 Tbsp 30 9 0.9 33
Rice 10 2 Tbsp + 2 tsp 32 12 0.8 38
Rice/apple 13 3 Tbsp + 1-1/2 tsp 30 12 0.8 51
Rice/apple bits 14 3-3/4 Tbsp 31 12 1.0 55
Rice/banana 12 3 Tbsp 29 12 0.8 46
Rice/mixed fruit 8 2 Tbsp 30 9 0.9 33
Cereals, Jarred
1st Foods ®
Oatmeal 50 3 Tbsp + 1-1/2 tsp 30 11 0.9 28
2nd & 3rd Foods ®
Mixed/applesauce/banana 77 5 Tbsp + 1 tsp 30 8 0.8 66
Oatmeal/applesauce/banana 70 4-3/4 Tbsp 30 8 0.9 58
Rice/applesauce 130 9 Tbsp 30 9 1.0 118
Tender Harvest
Banana/oatmeal/peach 60 4 Tbsp 30 3 0.7 44
Butternut squash/corn 61 4-1/4 Tbsp 30 10 1.2 31
Garden carrots/brown rice 143 10 Tbsp 30 13 1.3 26
Green beans/potatoes 22 1 Tbsp + 1-1/2 tsp 30 7 0.5 14
Spring garden vegetables 47 3-1/4 Tbsp 30 7 0.7 16
Vegetables
1st Foods ®
Peas 15 1 Tbsp 30 5 0.5 7
Potatoes 60 2 Tbsp 30 11 0.6 28
Sweet potatoes 100 7 Tbsp 30 16 1.1 65
2nd Foods ®
Creamed corn 43 3 Tbsp 30 13 0.8 27
Creamed spinach 18 1 Tbsp + 1/4 tsp 30 7 0.6 8
Garden vegetables 23 1 Tbsp + 1 tsp 29 6 0.5 9
Mixed vegetables 42 3 Tbsp 30 5 0.5 15
Peas 14 1 Tbsp 29 5 0.4 7
Sweet potatoes 91 6 Tbsp + 1 tsp 30 14 0.9 56
3rd Foods ®
Green beans/rice 67 4 Tbsp + 1-1/2 tsp 30 11 0.8 28
Peas/rice 19 1 Tbsp + 1 tsp 30 5 0.4 10
Sweet potatoes 77 5 Tbsp + 1 tsp 30 18 0.8 46
182 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
Food Weight Approximate LYS TRP Protein Energy
(g) Measure (mg) (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
FRUITS/JUICES
1st Foods ®
Bananas 45 3 Tbsp 20 2 0.5 45
Peaches 83 5-3/4 Tbsp 20 5 0.6 36
Pears 133 9 Tbsp + 1 tsp 20 8 1.3 134
Prunes 133 9 Tbsp + 1 tsp 20 8 1.3 134
2nd Foods ®
Apricot/mixed fruit 107 7 Tbsp + 1 tsp 20 2 0.6 63
Bananas/apples/pears 56 4 Tbsp 20 2 0.5 46
Peaches 83 5-3/4 Tbsp 20 5 0.6 53
Peach cobbler dessert 125 8-3/4 Tbsp 20 10 0.6 95
3rd Foods ®
Hawaiian delight dessert 26 1 Tbsp + 2 tsp 20 3 0.3 23
Fruit Juices
Mixed juice 100 3.2 fl oz 20 3 0.3 48
Orange juice 218 7 fl oz 21 5 1.6 100
Orange/banana/pineapple juice 10 3-1/3 fl oz 21 2 0.5 58
Fruit/Vegetable Juices
Apple/sweet potato 154 5 fl oz 20 5 0.5 80
Tender Harvest
Pear/wild blueberry 154 10 3/4 Tbsp 20 3 0.6 94
Pears/winter squash 53 3-3/4 Tbsp 20 5 0.6 27
Tropical fruit blend 77 5 Tbsp + 1 tsp 20 2 0.5 57
VEGETABLES
1st Foods ®
Carrots 105 7 Tbsp + 1 tsp 20 6 0.9 37
Green beans 30 2 Tbsp 20 7 0.4 9
Squash 49 3 Tbsp + 1-1/2 tsp 20 6 0.4 17
2nd Foods ®
Carrots 105 7 Tbsp + 1 tsp 20 6 0.8 32
Green beans 38 2-3/4 Tbsp 20 10 0.5 11
Squash 59 4 Tbsp 20 9 0.5 19
3rd Foods ®
Carrots 83 5-3/4 Tbsp 20 7 0.7 24
Squash 80 5-1/2 Tbsp 20 7 0.6 26
FREE FOODS A
© 2001 Ross Products Division Glutaric Aciduria Type I or 2-Ketoadipic Aciduria 183
Food Weight Approximate LYS TRP Protein Energy
(g) Measure (mg) (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
Fruits
1st Foods ®
Applesauce 43 3 Tbsp 5 1 0.1 23
Pears 33 2 Tbsp + 1 tsp 5 2 0.1 19
Prunes 33 2 Tbsp + 1 tsp 5 2 0.3 33
2nd & 3rd Foods ®
Apple/blueberry 50 3 Tbsp + 1-1/2 tsp 5 1 0.1 25
Bananas 33 2 Tbsp + 1 tsp 5 2 0.2 26
Pears 33 2 Tbsp + 1 tsp 5 2 0.1 18
Pear/pineapple 33 2 Tbsp + 1 tsp 5 1 0.1 18
Plums 100 7 Tbsp 5 3 0.3 74
Prunes 50 3 Tbsp + 1-1/2 tsp 5 4 0.4 38
Tender Harvest
Apple/sweet potato 50 ND 5 2 0.2 32
Fruit Juices
Apple/carrot juice 71 2-1/4 fl oz 5 1 0.1 31
Apple/cherry juice 100 3.2 fl oz 5 1 0.1 48
Apple/cranberry juice 100 3.2 fl oz 5 1 0.1 44
Apple/grape juice 100 3.2 fl oz 5 1 0.1 48
Apple juice 100 3.2 fl oz 5 1 0.1 46
Pear juice 100 3.2 fl oz 5 1 0.1 47
Tender Harvest
Apple/sweet potato 50 ND 5 2 0.2 32
ND = No data. Prepared from 1998 and 1999 data from Gerber Products, Co., Fremont, MI, 49413.
184 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
1
TABLE 9-5. Serving Lists for LYS- and TRP-Restricted Diets: Table Foods
© 2001 Ross Products Division Glutaric Aciduria Type I or 2-Ketoadipic Aciduria 185
Food Weight Approximate LYS TRP Protein Energy
(g) Measure (mg) (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
Rice Chex ® 13 1/2 cup 29 10 0.7 50
Rice Krispies ® 9 1/3 cup 27 36 0.6 37
Rice, puffed 10 3/4 cup 28 10 0.7 42
Special K ® 4 2 Tbsp + 1 tsp 30 11 0.8 16
Sugar Frosted Flakes ® 31 3/4 cup + 2 Tbsp 30 10 1.5 117
Sugar Smacks ® 17 7 Tbsp 32 18 1.2 62
Super Sugar Crisp ® 17 1/2 cup 30 17 1.1 62
Team ® 13 1/4 cup + 1 Tbsp 32 12 0.8 51
Total ® 10 1/4 cup + 1 Tbsp 32 20 1.0 36
Trix ® 21 3/4 cup 27 8 1.1 81
Wheat
puffed 8 2/3 cup 32 18 1.1 28
shredded 9 1/3 oz 31 29 1.0 32
Wheat Chex ® 12 1/4 cup 32 18 1.1 42
Wheaties ® 10 1/3 cup 28 17 0.9 34
Grains
Corn, cooked
cream style 40 2-1/2 Tbsp 30 5 0.7 29
whole kernel 20 2 Tbsp 29 5 0.7 22
Rice, cooked
brown 33 3 Tbsp 31 12 0.8 39
fried 28 2 Tbsp 33 8 0.7 32
pilaf 29 2 Tbsp 31 14 1.2 44
Rice-A-Roni ® 36 2 Tbsp + 1 tsp 32 10 1.0 41
Spanish 45 3 Tbsp 30 9 0.8 39
white
instant 36 3 Tbsp + 1 tsp 29 9 0.8 39
regular 39 3 Tbsp 28 8 0.8 42
Pasta, cooked
Macaroni 24 3 Tbsp 27 15 1.2 36
Noodles, egg 20 2 Tbsp 28 9 0.8 25
Ramen ® noodles 29 3 Tbsp 33 18 1.6 65
Spaghetti 27 3 Tbsp 31 17 1.4 41
Tubers
Potatoes, sweet
baked
no skin, mashed 41 2 Tbsp 33 8 0.7 43
w/ skin, mashed 38 3 Tbsp 32 8 0.6 39
canned, packed in syrup 61 1/4 cup + 1 Tbsp 27 7 0.5 84
Potatoes, white
baked, no skin 23 3 Tbsp 27 7 0.4 21
boiled
no skin 29 3 Tbsp 30 8 0.5 25
w/ skin 29 3 Tbsp 33 9 0.5 26
canned 34 3 Tbsp 29 8 0.5 20
French fries (1/2" x 1/2" x 2"),
fresh 15 3 pieces 32 8 0.6 47
frozen, baked 15 3 pieces 28 7 0.5 49
microwaved, w/ skin 26 2 Tbsp + 2 tsp 33 9 0.5 26
hash browns, frozen, cooked 20 2 Tbsp 33 8 0.6 43
Tater Tots ® 28 3 pieces 30 8 0.6 46
Yams, baked or boiled 51 1/4 cup + 2 Tbsp 30 6 0.8 59
186 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
Food Weight Approximate LYS TRP Protein Energy
(g) Measure (mg) (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
Miscellaneous
Chocolate sauce (Hershey's ®) 38 2 Tbsp 31 10 0.7 82
Chow Mein noodles 11 3 Tbsp 26 13 1.1 56
Ice cream cone, wafer type 4 1 (cone only) 10 5 0.4 17
Jell-O ®, prepared w/ sugar 45 3 Tbsp 30 0 0.7 26
Snack Foods
Barnum's Animal Crackers ® 21 8 crackers 31 17 1.4 89
Breadsticks 12 2 pieces 32 18 1.4 46
Cookies
chocolate chip 12 1 cookie 18 7 0.6 62
fig bar 32 2 cookies 30 16 1.2 115
gingersnap 25 3-1/2 cookies 30 16 1.3 103
Oreo ® 22 2 cookies 26 12 1.1 107
sandwich 28 2-1/2 cookies 29 16 1.3 136
Sno Balls ® 32 3/4 cookie 30 11 1.0 112
Social Tea Biscuits ® 21 4 cookies 30 14 1.2 96
Sugar Wafers ® (Nabisco) 33 6 cookies 27 15 1.3 160
vanilla wafer 24 6 cookies 29 16 1.3 111
Crackers
Goldfish ®, original 15 25 crackers 29 12 1.1 74
graham (2" x 2") 18 2-1/2 crackers 31 17 1.4 67
Melba toast 12 2 pieces 33 18 1.6 41
Ritz ® 20 6 crackers 29 16 1.4 99
Ritz Bits ®, cheese 9 13 crackers 28 11 0.9 45
Rykrisp ® 6 1 triple cracker 26 7 0.6 23
saltines 15 5 crackers 30 17 1.4 65
Triscuits ® 16 3-1/2 crackers 29 16 1.4 73
Waverly ® 21 3 crackers 33 18 1.6 104
Wheat Thins ® 18 10 crackers 28 15 1.4 86
Doodads ®, original 12 3 Tbsp + 1 tsp 29 13 1.3 58
Doritos ® 18 10 chips 28 19 1.3 88
Fritos ® 22 11 chips 30 18 1.5 120
Popcorn
buttered 16 1-3/4 cups 33 9 1.6 72
caramel 23 2/3 cup 28 8 1.4 88
plain 12 2 cups 30 9 1.5 46
Pringles ® potato crisps 8 4 chips 31 8 0.5 42
Pretzels 18 3 pretzels 30 30 1.8 70
Tortilla (6" diameter)
corn 21 1 tortilla 27 6 1.0 30
flour 15 1/2 tortilla 26 14 1.2 48
FATS
Butter
stick 9 2 tsp 6 1 0.1 68
whipped 9 1 Tbsp 6 1 0.1 68
Gravy
mushroom, canned 20 1 Tbsp + 1 tsp 6 3 0.3 10
onion mix, dry 3 2 Tbsp 6 3 0.3 10
Margarine
imitation 14 1 Tbsp 6 1 0.1 50
soft 9 2 tsp 6 1 0.1 68
stick or brick 9 2 tsp 6 1 0.1 67
© 2001 Ross Products Division Glutaric Aciduria Type I or 2-Ketoadipic Aciduria 187
Food Weight Approximate LYS TRP Protein Energy
(g) Measure (mg) (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
Nondairy creamer w/ sodium caseinate
liquid 10 2 tsp 7 2 0.1 174
Polyrich ® 29 2 Tbsp 5 1 0.1 44
powder 2 1 tsp 8 1 0.1 11
Rich's ® Coffee Rich 29 2 Tbsp 5 1 0.1 44
Olives
black 10 2 olives 6 1 0.1 18
green 10 2 olives 7 2 0.1 12
Salad dressings, commercial
Catalina 51 3 Tbsp 6 2 0.2 217
French 16 1 Tbsp 6 1 0.1 67
Italian 15 1 Tbsp 7 2 0.1 69
mayonnaise 9 2 tsp 7 2 0.1 66
Miracle Whip ® 14 1 Tbsp 4 1 0.1 70
Thousand Island 10 2 tsp 6 1 0.1 39
Tartar sauce 7 1-1/2 tsp 7 2 0.1 37
Toppings, commercial
Cool Whip ®,
extra creamy 3 2 tsp 6 1 0.1 10
regular 5 1 Tbsp + 1 tsp 6 1 0.1 15
Dessert topping w/ sodium caseinate, pressurized 9 2 Tbsp 7 1 0.1 23
Whipped cream, pressurized 2 2 tsp 6 1 0.1 6
FRUITS
Fruits are raw unless otherwise noted. Weight of raw fruits is only for parts that can be eaten. Drain canned, cooked, and frozen fruits before
measuring or weighing.
Apples
butter 80 1/4 cup 19 3 0.3 148
canned, sweetened, sliced 204 1 cup 22 4 0.4 137
dried 23 1/3 cup 16 3 0.3 69
sauce, canned, sweetened 168 1 cup 19 3 0.3 128
whole, medium 138 1 fruit 17 3 0.3 81
Apricots
canned, heavy syrup 48 3 Tbsp 18 4 0.3 40
dried
cooked, mashed 21 1 Tbsp + 1 tsp 19 5 0.3 18
halves 7 2 18 5 0.3 17
nectar, canned 79 2-1/2 fl oz 20 6 0.3 44
whole 18 1/2 fruit 17 3 0.2 8
Avocadoes, all varieties, mashed 20 1 Tbsp + 1-1/4 tsp 19 4 0.4 33
Banana, sliced 42 3 Tbsp 20 5 0.4 39
Blackberries
canned, heavy syrup 37 2 Tbsp + 1 tsp 20 6 0.5 34
frozen, sweetened 38 1/4 cup 18 5 0.4 24
raw 72 1/2 cup 21 6 0.5 38
Blueberries
frozen, sweetened 287 1-1/4 cups 20 6 1.1 233
raw 163 1 cup + 2 Tbsp 20 5 1.1 91
Cherries, canned, heavy syrup
sour, red 117 1/2 cup 19 9 0.9 106
sweet 72 1/2 cup 20 9 0.9 52
Coconut, shredded
dried 7 1 Tbsp + 1 tsp 21 5 0.5 47
dried, sweetened w/ sugar 15 3 Tbsp 21 6 0.6 69
Currants, black 84 3/4 cup 21 5 1.2 53
Dates 33 4 fruits 20 17 0.7 91
Elderberries, raw 76 1/2 cup 19 10 0.5 55
188 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
Food Weight Approximate LYS TRP Protein Energy
(g) Measure (mg) (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
Figs
canned, heavy syrup 129 1/2 cup 19 4 0.5 113
dried
cooked, mashed 33 2 Tbsp 17 4 0.4 36
uncooked, chopped 17 1 Tbsp + 1 tsp 20 4 0.5 42
whole, large 64 1 fruit 19 4 0.5 47
Fruit cocktail, canned, heavy syrup 127 1/2 cup 19 5 0.5 93
Fruit salad, canned, heavy syrup 127 1/2 cup 22 5 0.4 93
Grapefruit
canned in juice 124 1/2 cup 22 2 0.9 46
juice, canned, unsweetened 278 9 fl oz 19 6 1.4 106
sections
red and pink 115 1/2 cup 18 2 0.7 37
white 118 1/2 fruit 19 2 0.7 38
Grapes
European, green 120 3/4 cup 18 4 0.8 85
Thompson, seedless, canned, heavy syrup 169 2/3 cup 19 3 0.8 123
Guavas 90 1 fruit 21 6 0.7 46
Kiwi fruit 57 3/4 fruit 19 15 0.6 35
Lemons 33 1/2 fruit 18 3 0.4 9
Mangoes, sliced 54 1/3 cup 22 4 0.3 35
Melons, cubed
cantaloupe 53 1/3 cup 19 3 0.5 18
casaba 56 1/3 cup 21 4 0.5 15
honeydew 112 2/3 fruit 21 3 0.5 39
Mixed fruit, canned, heavy syrup 127 1/2 cup 20 4 0.5 92
Nectarines 67 1/2 fruit 21 2 0.6 33
Oranges
juice
fresh 248 8 fl oz 22 5 1.7 111
canned 249 8 fl oz 20 5 1.5 104
frozen, diluted 249 8 fl oz 22 5 1.7 112
sections 45 1/4 cup 21 4 0.4 21
Papayas
nectar, canned 282 9 fl oz 20 5 0.5 161
cubed 70 1/2 cup 18 6 0.4 27
Peaches
canned, heavy syrup, sliced 128 1/2 cup 19 1 0.6 95
dried, halves 13 1 15 0 0.5 31
frozen, sweetened 82 1/3 cup 17 2 0.5 78
nectar, canned 218 7 fl oz 20 2 0.6 118
sliced 85 1/2 cup 20 2 0.6 37
Pears
canned, heavy syrup 255 1 cup 18 18 0.5 189
dried
cooked 64 1/4 cup 20 17 0.6 81
halves 35 2 23 17 0.7 91
sliced 124 3/4 cup 17 11 0.5 73
Persimmons, Japanese 55 1/3 fruit 18 6 0.3 39
Pineapple
canned, heavy syrup 127 1/2 cup 20 6 0.4 99
diced 77 1/2 cup 19 4 0.3 38
frozen, sweetened, chunks 81 1/3 cup 21 4 0.3 69
juice bar, frozen 74 1 bar 19 4 0.3 70
juice, canned 125 4 fl oz 19 5 0.4 70
canned, heavy syrup, tidbits or crushed 128 1/2 cup 21 7 0.5 100
Plantains, cooked, sliced 51 1/3 cup 18 5 0.4 59
© 2001 Ross Products Division Glutaric Aciduria Type I or 2-Ketoadipic Aciduria 189
Food Weight Approximate LYS TRP Protein Energy
(g) Measure (mg) (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
Plums
purple, canned, heavy syrup 258 1 cup 21 21 0.9 230
sliced 109 2/3 cup 19 2 0.9 60
Prunes
canned, heavy syrup 117 1/2 cup 22 2 1.0 123
dried
cooked 70 1/3 cup 18 2 0.8 75
uncooked 34 4 pieces 20 2 0.9 80
juice, canned 128 4 fl oz 18 2 0.8 91
Raisins
golden 27 3 Tbsp 20 4 0.9 82
regular, seedless 27 3 Tbsp 19 4 0.9 82
Raspberries
canned, heavy syrup 64 1/4 cup 22 6 0.5 58
frozen, red, sweetened 63 1/4 cup 18 5 0.4 65
raw 61 1/2 cup 23 6 0.6 30
Rhubarb, cooked, sweetened 119 1/2 cup 18 6 0.6 139
Strawberries
frozen, sweetened, sliced 84 1/3 cup 19 5 0.4 81
sliced 74 1/2 cup 19 5 0.5 22
Tangerines
juice, canned 249 8 fl oz 17 3 1.2 124
whole 63 3/4 fruit 20 4 0.4 28
Watermelon, cubed 30 3 Tbsp 19 2 0.2 10
VEGETABLES
Vegetables are raw unless otherwise noted. Weight of raw vegetables is only for parts that can be eaten. Drain canned, cooked, and frozen
fruits before measuring or weighing.
Asparagus
fresh or frozen, cooked 15 1 spear 19 4 0.4 6
raw 15 1 spear 19 4 0.4 4
Bamboo shoots, canned, sliced 22 3 Tbsp 18 4 0.3 3
Beans
snap green
canned 34 1/4 cup 19 4 0.4 7
fresh, cooked 23 3 Tbsp 21 5 0.4 8
frozen, cooked 34 1/4 cup 22 5 0.5 9
sprouts, mung (seed attached to sprout)
cooked 16 2 Tbsp 20 4 0.3 3
raw 13 2 Tbsp 22 5 0.4 4
yellow wax, canned 33 2 Tbsp 18 4 0.4 7
Beets
greens, cooked, chopped 27 3 Tbsp 20 11 0.7 7
red, sliced
fresh, canned, cooked 53 1/4 cup + 1 Tbsp 20 7 0.6 16
pickled 75 1/3 cup 22 7 0.6 50
Broccoli, fresh or frozen
cooked 13 1 Tbsp + 1 tsp 19 4 0.4 4
raw 13 1 Tbsp + 1 tsp 20 4 0.4 4
Brussels sprouts, fresh or frozen, cooked 16 1 Tbsp + 2 tsp 19 5 0.4 6
Cabbage, shredded
Chinese (Pak-choi)
cooked 21 2 Tbsp 20 3 0.3 3
raw 23 1/3 cup 21 4 0.3 3
190 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
Food Weight Approximate LYS TRP Protein Energy
(g) Measure (mg) (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
red
cooked 37 1/4 cup 19 4 0.4 8
raw 35 1/2 cup 20 4 0.4 8
Carrots
canned, sliced 73 1/2 cup 18 5 0.5 17
cooked 49 1/4 cup + 1 Tbsp 21 6 0.5 22
sliced 55 1/2 cup 22 6 0.6 24
Cauliflower
diced, cooked
fresh 20 2 Tbsp + 2 tsp 20 5 0.4 5
frozen 13 1 Tbsp + 2 tsp 13 3 0.2 3
raw 19 3 Tbsp 20 5 0.4 5
Celery, diced
cooked 99 2/3 cup 20 7 0.5 15
raw 79 2/3 cup 21 7 0.5 13
Chard, Swiss, cooked 22 2 Tbsp 23 4 0.4 4
Collards, cooked, chopped
fresh 36 3 Tbsp 19 5 0.4 5
frozen 14 1 Tbsp + 1 tsp 20 5 0.4 5
Eggplant, cubed
cooked 48 1/2 cup 19 4 0.4 13
raw 41 1/2 cup 21 4 0.5 11
Endive, shredded 33 2/3 cup 21 2 0.4 6
Horseradish 7 2-1/2 Tbsp 20 5 0.3 4
Kale, cooked
fresh 16 2 Tbsp 19 4 0.3 5
frozen 11 1 Tbsp + 1 tsp 19 4 0.3 3
Kohlrabi, sliced
cooked 31 3 Tbsp 18 3 0.6 9
raw 35 1/4 cup 20 4 0.6 10
Leeks, diced
cooked 52 1/2 cup 22 3 0.4 16
raw 26 1/4 cup 20 3 0.4 16
Lettuce, shredded
iceberg 28 1/2 cup 21 2 0.3 4
Romaine 18 1/3 cup 19 2 0.3 3
Mushrooms
Agaricus bisporus, sliced
cooked or canned 9 2 Tbsp 19 4 0.2 2
raw 9 2 Tbsp 19 4 0.2 2
Shitake
cooked, pieces 48 1/3 cup 22 1 0.7 27
dried 5 1-1/2 mushrooms 18 2 0.5 17
Mustard greens, chopped
cooked 19 2 Tbsp + 1/2 tsp 20 5 0.4 3
raw 18 1/4 cup + 1 Tbsp 22 5 0.5 5
Okra, cooked, sliced 27 2 Tbsp + 2 tsp 20 4 0.5 8
Onions
cooked 53 1/4 cup 23 7 0.5 15
flakes 5 1 Tbsp 21 6 0.5 16
raw, diced 40 1/4 cup 22 7 0.5 14
rings, canned 23 1 cup 10 5 0.4 82
Parsnips, cooked 39 1/4 cup 20 5 0.5 32
Peas, green, cooked, canned, frozen 10 1 Tbsp 18 2 0.3 5
Peppers
green, sweet, diced
cooked 68 1/2 cup 19 5 0.4 12
© 2001 Ross Products Division Glutaric Aciduria Type I or 2-Ketoadipic Aciduria 191
Food Weight Approximate LYS TRP Protein Energy
(g) Measure (mg) (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
raw 50 1/2 cup 19 6 0.4 13
jalapeño, canned, cooked 51 1/4 cup + 2 Tbsp 18 5 0.4 12
Pickle, cucumber
dill
relish 14 1 Tbsp 4 1 0.1 3
whole, small 60 1 pickle 17 3 0.4 7
sweet
relish 16 1 Tbsp 3 1 0.1 22
sliced 60 2 slices 17 3 0.4 88
Pumpkin
canned 31 2 Tbsp 18 4 0.3 10
cooked 34 3 Tbsp 20 5 0.4 35
Radishes, red, sliced 58 1/2 cup 20 2 0.3 10
Rutabaga
cooked, mashed 56 1/3 cup 20 7 0.6 19
raw, cubed 46 1/3 cup 18 6 0.6 17
Sauerkraut 44 3 Tbsp 19 4 0.4 8
Shallots, chopped 17 1 Tbsp + 2 tsp 21 5 0.4 12
Spinach, chopped
fresh or frozen, cooked 11 1 Tbsp 19 4 0.3 3
raw 11 3 Tbsp 19 4 0.3 2
Squash, summer, all varieties
summer, all varieties
fresh or frozen, cooked 37 3 Tbsp + 1 tsp 19 3 0.3 7
sliced 33 1/4 cup 21 4 0.4 7
winter
acorn, baked, cubed 51 1/4 cup 21 5 0.6 29
butternut, baked, cubed 68 1/3 cup 22 9 0.6 27
Hubbard, baked, cubed 38 1/3 cup 21 8 0.9 19
spaghetti, boiled 101 2/3 cup 22 9 0.7 29
Taro, cooked
leaves 15 1 Tbsp + 2 tsp 20 4 0.4 4
root, sliced 75 1/2 cup 17 6 0.4 107
Tomato
catsup 26 1 Tbsp + 1 tsp 21 5 0.5 27
fresh, canned, cooked 45 3 Tbsp 19 4 0.5 11
juice 92 3 fl oz 20 5 0.7 16
paste 19 1 Tbsp + 1/2 tsp 21 5 0.7 16
purée 39 2-1/2 Tbsp 19 4 0.7 16
sauce
marinara 45 3 tbsp 20 5 0.7 31
w/ onions, green peppers, and celery 46 3 Tbsp 17 4 0.6 14
stewed, canned 64 1/4 cup 22 5 0.6 17
whole, chopped 59 1/3 cup 20 4 0.5 11
Turnips
greens, cooked, chopped 27 3 Tbsp 20 5 0.3 5
root, diced
cooked 78 1/2 cup 22 5 0.6 14
raw 60 1/2 cup 21 5 0.5 17
Vegetable cocktail juice (V8 ®) 39 2-1/2 Tbsp 19 4 0.7 16
Soups, Campbell's ®, Condensed. Weigh or measure before diluting and dilute with water only.
Asparagus, Cream of 21 1 Tbsp + 1 tsp 19 5 0.4 14
Celery, Cream of 31 2 Tbsp 19 5 0.4 23
Mushroom, Cream of 24 1-1/2 Tbsp 20 5 0.4 24
Onion 15 1 Tbsp 22 7 0.5 7
192 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
Food Weight Approximate LYS TRP Protein Energy
(g) Measure (mg) (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
Potato, Cream of 31 2 Tbsp 21 6 0.4 19
Tomato 47 3 Tbsp 19 8 0.8 32
Tomato Bisque 31 2 Tbsp 22 6 0.6 30
Tomato Rice 48 3 Tbsp 19 8 0.8 45
Vegetable, Chunky, Ready To Serve 25 1 Tbsp + 2 tsp 20 3 0.4 13
Vegetable, Old Fashioned 26 1 Tbsp + 2 tsp 21 3 0.5 14
Vegetarian Vegetable 26 1 Tbsp + 2 tsp 21 3 0.4 15
FREE FOODS A
Limit to prescribed number of servings.
Beverages
Apple juice 155 5 fl oz 5 0 0.1 73
Chocolate drink powder (Quik ®) 3 1 tsp 4 1 0.1 11
Grape juice, canned 63 2 fl oz 6 10 0.4 38
Lemon juice 92 3 fl oz 5 1 0.4 19
Orange juice
canned 62 2 fl oz 5 1 0.4 26
frozen, diluted 62 2 fl oz 6 1 0.4 28
Orange-grapefruit juice, canned 62 2 fl oz 5 1 0.4 27
Papaya nectar 93 3 fl oz 7 2 0.2 53
Pear nectar 125 4 fl oz 5 3 0.1 75
Tangerine juice, frozen, diluted 90 3 fl oz 6 1 0.4 42
Fruits/Fruit Products
Apples, dried, cooked 42 3 Tbsp 6 1 0.1 24
Apple pie filling 61 1/4 cup 4 1 0.1 68
Blueberries, raw 36 1/4 cup 4 1 0.2 52
Cranberry sauce sweetened w/ sugar 132 1/2 cup 6 1 0.3 209
Fruit ices 24 2 Tbsp 5 1 0.1 3
Fruit Roll-Ups ® 14 1 piece 6 3 0.2 55
Grapes, slipskin 48 20 grapes 6 2 0.3 30
Guava sauce 59 1/4 cup 5 2 0.2 21
Jams and preserves 20 1 Tbsp 5 1 0.1 54
Marmalade 19 1 Tbsp 5 1 0.1 50
Loquats 20 2 fruits 6 1 0.1 10
Miscellaneous
Licorice 5 1/2 piece 4 2 0.2 17
M&M ® Candy, plain 1 1 piece 3 1 0.1 4
Raisins, chocolate covered 1 1 raisin 4 1 0.1 6
Sorbet
peach 24 2 Tbsp 5 0 0.1 30
pineapple 15 1 Tbsp 4 1 0.1 14
strawberry 30 2 Tbsp 5 1 0.1 29
Tapioca, dry 31 3 Tbsp 6 3 0.2 109
Vegetables
Chives 3 1 Tbsp 4 1 0.1 1
Cucumbers, pared, sliced 26 1/4 cup 6 1 0.1 4
Radishes, white icicle, sliced 21 1/4 cup 6 0 0.1 4
FREE FOODS B
These foods contain little or no LYS or TRP. They may be used as desired if patient is not overweight and if they do not depress appetite for
prescribed foods.
Beverages
Carbonated drinks
cola 123 4 fl oz 0 0 0.0 50
© 2001 Ross Products Division Glutaric Aciduria Type I or 2-Ketoadipic Aciduria 193
Food Weight Approximate LYS TRP Protein Energy
(g) Measure (mg) (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
cream soda 124 4 fl oz 0 0 0.0 63
Dr Pepper ® 31 1 fl oz 0 0 0.0 13
ginger ale 122 4 fl oz 0 0 0.0 41
grape soda 124 4 fl oz 0 0 0.0 53
lemon-lime soda 123 4 fl oz 0 0 0.0 49
orange soda 124 4 fl oz 0 0 0.0 60
root beer 123 4 fl oz 0 0 0.0 50
Cranberry juice cocktail 190 6 fl oz 2 0 0.0 108
Exceed ® Energy Drink 124 4 fl oz 0 0 0.0 23
Fruit drink (Hi-C ®) 124 4 fl oz 0 0 0.0 58
Fruit juice drink 124 4 fl oz 2 0 0.1 62
Gatorade ® Thirst Quencher 121 4 fl oz 0 0 0.0 30
Kool-Aid ®, prepared w/ sugar 123 4 fl oz 0 0 0.0 49
Lemonade 123 4 fl oz 1 0 0.1 49
Lime juice 31 1 fl oz 1 0 0.1 6
Orange drink powder (Tang ®) 12 1 Tbsp 0 0 0.0 47
Strawberry drink powder (Quik ®) 8 1 Tbsp 0 0 0.0 33
Desserts/Sweeteners
Candies
candy corn 8 5 pieces 1 0 0.0 29
gumdrops 20 4 pieces 0 0 0.0 28
hard candy 10 2 pieces 0 0 0.0 39
jelly beans 28 10 pieces 0 0 0.0 103
Frosting, strawberry and vanilla 16 1 Tbsp 0 0 0.0 69
Jellies 20 1 Tbsp 0 0 0.0 54
Lemon pudding, canned (Hunt's ®) 121 1 container 0 0 0.0 151
Popsicle ®, twin 128 1/2 popsicle 0 0 0.0 95
Miscellaneous
Butterscotch chips 1 1 piece 2 0 0.0 3
Fruit juice bars 52 1 bar 2 1 0.1 43
Fun fruits 26 1 piece 2 1 0.1 100
Honey 21 1 Tbsp 2 1 0.1 64
Lard 13 1 Tbsp 0 0 0.0 115
Molasses 21 1 Tbsp 0 0 0.0 48
Oil
olive 13 1 Tbsp 0 0 0.0 119
vegetable 14 1 Tbsp 0 0 0.0 120
Richwhip ® liquid 14 1 Tbsp 0 0 0.0 40
Sugar
brown 14 1 Tbsp 0 0 0.0 52
powdered 8 1 Tbsp 0 0 0.0 31
table 12 1 Tbsp 0 0 0.0 48
Syrup
maple 20 1 Tbsp 0 0 0.0 50
table 20 1 Tbsp 0 0 0.0 50
Tallow, beef 13 1 Tbsp 0 0 0.0 115
1
For composition of very-low-protein foods, see Appendix 12, p A-11.
194 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
192 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria
TABLE 9-6. Glutaric Aciduria Type I or 2-Ketoadipic Aciduria Clinical Summary Sheet
196 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
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Publisher, 1976.
57. Smith JL, Arteaga C, Heymsfield SB: Increased ureagenesis and impaired nitrogen use during infusion of a
synthetic amino acid formula - A controlled trial. N Engl J Med 1982;306:1013-1018.
58. Smith JL, Heymsfield SB: Enteral nutrition support: Formula preparation from modular ingredients. JPEN
1983;7:280-288.
59. Snyderman SE, Boyer A, Phansalkar SV, et al: Essential amino acid requirements of infants: Tryptophan. Am J
Dis Child 1961;102:163-167.
60. Snyderman SE, Norton PM, Fowler DI, Holt LE: The essential amino acid requirements of infants: Lysine. Am J
Dis Child 1959;97:175-185.
61. Spika JS, Shaffer N, Hargrett-Bean N, et al: Risk factors for infant botulism in the United States. Am J Dis Child
1989;143:828-832.
62. Stumpf DA, Parker WD, Angelini C: Carnitine deficiency, organic acidemias and Reye's syndrome. Neurology
1985;35:1041-1045.
63. Sturman JA, Applegarth DA: Automated amino acid analysis. In Boulton AA, et al (eds): Neuromethods: Amino
Acids, vol 3. Totowa, NJ: Humana Press, 1985.
© 2001 Ross Products Division Glutaric Aciduria Type I or 2-Ketoadipic Aciduria 197
64. Superti-Fuerga A, Hoffman GF: Glutaric aciduria type I (glutaryl-GA-dehydrogenase deficiency): Advances and
unanswered questions. Eur J Pediatr 1997;156:821-828.
65. Tietz NW (ed): Textbook of Clinical Chemistry. Philadelphia: WB Saunders Co, 1986.
66. Torun B, Pineda O, Vitera FE, Arroyave G: Use of amino acid composition data to predict protein nutritive value
for children with specific reference to new estimates of their essential amino acid requirements. In Bodwell CE, et
al (eds): Protein Quality in Humans. Assessment and in Vitro Estimation. Westport, Conn: Avi Publishing Co Inc,
1981.
67. Ullrich K, Flott-Rahmel B, Schluff P, et al : Glutaric aciduria type I: Pathomechanisms of neurodegeneration.
J Inher Metab Dis 1999;22:392-403.
68. Yannicelli S, Rohr F, Warman ML: Nutrition support for glutaric acidemia type I. J Amer Diet Assoc
1994;94:183-191.
69. Young VR, Hussein MA, Murray E, Scrimshaw NS: Plasma tryptophan response curve and its relation to
tryptophan requirements of young adult men. J Nutr 1971;101:45-60.
70. Young VR, Tontisirin K, Ozalp I, et al: Plasma amino acid response curve and amino acid requirements in young
men: Valine and lysine. J Nutr 1972;102:1159-1170.
71. Zempleni J, Galloway JR, McCormick, DB: Pharmacokinetics of orally and intravenously administered riboflavin in
healthy humans. Am J Clin Nutr 1996;63:54-66.
198 Glutaric Aciduria Type I or 2-Ketoadipic Aciduria © 2001 Ross Products Division
PROTOCOL 10 — Glutaric Acidemia Type II (Multiple Acyl-CoA Dehydrogenase
Deficiency)
ETF-Ubiquinone Oxidoreductase
H+ + NADH 1/2 O2 + 2 H+
Cytochrome C
Complex I Q Complex III Complex IV
NAD+ H2O
Complex II
(n) = Several steps
Succinate Fumarate = Enzyme defect
+
Figure I. Metabolism in GA II. NAD , NADH = nicotinamide adenine dinucleotide, oxidized and
reduced forms. Q = ubiquinone (coenzyme Q). Complexes I - IV of the respiratory chain
(Modified from reference 9).
F. Prevent Catabolism
B. Fat
1. Prescribe amount of total fat that promotes goals of nutrition support.
a. Supply 20% to 25% of total daily energy as fat.
b. Prescribe 3% of total energy as linoleic acid and 1.0% as α-linolenic acid (12).
Warning: Essential fatty acid deficiency may occur if intakes of linoleic acid and
α−linolenic acid are inadequate.
C. Protein
1. Prescribe amount that promotes normal growth without exceeding tolerance for ILE, LEU,
LYS, TRP, and VAL (Table 10-1, p 203).
Warning: Inadequate protein will result in growth failure.
D. Carbohydrate
1. Prescribe remaining energy as carbohydrate.
E. Fluid
1. Prescribe amount that will supply water requirements (Table 10-1, p 203). Under normal
circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid to children and
adults for each kcal ingested.
F. L-Carnitine
1. Prescribe amount that maintains normal plasma free carnitine concentrations ≥ 30 µmol/L.
a. Amounts of 50 to 300 mg/kg have been suggested.
G. GLY
1. Prescribe 100 to 150 mg/kg/day (43).
C. Energy
1. Calculate energy (kcal) provided by fat (Appendix 10, p A-9), beikost, or table foods
(Tables 10-2 and 10-3, pp 203-204) and add to that supplied by ProViMin, skim milk, or other
protein containing foods (Tables 10-2 and 10-3, pp 203-204).
2. Subtract amount of energy supplied by these sources from total energy requirement.
3. Supply any remaining prescribed energy with Polycose ® Glucose Polymers powder
(23 kcal/Tbsp, 3.8 kcal/g) or liquid (2 kcal/mL) (Appendix 9, p A-9), sugar (48 kcal/Tbsp),
beikost, or table foods containing little or no fat (Tables 10-2 and 10-3, pp 203-204).
a. Do not use corn syrup or table sugar for infants because of osmolarity they yield (34).
b. Do not use honey for infants because it may contain botulinum toxin (48).
4. Add baby foods after infant is 3 to 4 months old to provide variety in taste, color, and texture
(Table 10-2, p 203) if developmentally ready.
C. Protein Status
1. Evaluate plasma transthyretin concentration every 3 months until patient is 1 year old and
twice yearly thereafter (Appendix 17, p A-18, for standards).
a. Plasma transthyretin concentrations provide a more reliable and rapid indication of protein
status than plasma albumin concentrations.
b. Plasma albumin concentrations may be in the normal range when plasma transthyretin
concentrations show a clear deficiency (1).
2. If plasma transthyretin concentration is below normal for age:
a. Increase prescribed amount of protein by 5% to 10% and reevaluate transthyretin
concentration in 1 month.
b. If plasma transthyretin concentration remains low, repeat above process until value is in
normal range.
D. Urine Organic Acids
1. Evaluate monthly in infancy and every 2 to 3 months in children and adults.
2. If present and patient is not ill, decrease fat in diet by 3% to 5% and protein by 1% to 2%.
3. If fat is decreased to < 15% of energy, supplying adequate linoleic and α-linolenic acids may
become difficult.
E. Iron Status
1. Plasma ferritin concentration.
a. Evaluate at 6, 9, and 12 months of age and every 6 months thereafter (Appendix 17,
p A-18, for standards).
b. If plasma ferritin concentration is below normal for age:
1) Increase iron intake to 2 mg/kg with supplements (ferrous sulfate).
2) Evaluate plasma ferritin concentration monthly.
3) Continue iron supplements until plasma ferritin concentration is in normal range.
2. Complete blood count.
a. Hemoglobin and hematocrit concentrations should be evaluated at 6, 9, and 12 months of
age and every 6 months thereafter (Appendix 17, p A-18, for standards).
F. Growth Status
1. Length/height and weight.
a. Measure monthly to 1 year, every 3 months to 4 years, and twice yearly thereafter. Plot
measurements on NCHS growth charts.
b. Maintain length/height and weight between 10th and 90th percentiles. Some normal
infants and children will fall above or below these percentiles. Maintain appropriate weight
for height in adults.
2. If infant's or child's length/height or weight falls below usual growth channel:
a. Increase prescribed protein and energy by 5% to 10% and remeasure in 1 month.
b. If length/height or weight remains low, repeat above process until usual growth channel is
achieved.
G. Nutrient Intake
1. Maintain records of food intake for 3 days immediately before each blood test (Appendices 24
and 25, pp A-26 and A-27).
2. Evaluate intakes of fat, linoleic and α-linolenic acids, protein, energy, minerals, and vitamins
after each diet change.
a. Appendix 23, p A-25, may be used to check adequacy of nutrients if computer program is
not available.
b. See Appendix 28, p A-29, for information about ordering software for diet evaluation.
204 Glutaric Acidemia Type II © 2001 Ross Products Division
H. Clinical Summary
1. A summary record of growth, laboratory, and nutrient intake data is useful for patient
management (Table 10-5, p 206).
X. Sample Prescription
A. Example
Establish and fill prescription for newborn weighing 3.5 kg using Recommended Daily Nutrient Intakes
from Table 10-1, p 203, and nutrient contents from Tables 10-2 and 10-3, pp 203 and 204, and
Appendix 10, p A-9.
1. Establish prescription.
Energy 120 kcal/kg x 3.5 kg = 420 kcal
Fat 420 kcal x 0.20 = 84 kcal ÷ 9 kcal = 9.3 g
Protein 3.5 kg x 2.0 g/kg = 7.0 g
Carbohydrate 420 kcal - 112 kcal = 308 kcal ÷ 4 kcal = 77 g
Fluid 150 mL/kg x 3.5 kg = 525 mL
2. Fill prescription.
Medical Food Mixture Measure Fat Protein Energy
(g) (g) (kcal)
ProViMin 9.6 g 0.13 7.00 30
Soy Oil 10.0 mL 9.00 0.00 80
Polycose powder 82 g 0.00 0.00 312
Add water to make 525 mL (18 fl oz).
Age Nutrient
1
Protein Fat Energy1 Fluid2
(g/kg) (% of energy) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 2.0 - 1.7 20 - 25 120 (145 - 95) 150 - 125
3 to < 6 mo 1.7 - 1.4 20 - 25 115 (145 - 95) 160 - 130
6 to < 9 mo 1.4 - 1.1 20 - 25 110 (135 - 80) 145 - 125
9 to < 12 mo 1.4 - 1.1 20 - 25 105 (135 - 80) 135 - 120
TABLE 10-2. Average Nutrient Contents of Gerber ® Baby Foods, ProViMin, and Skim Milk 1
mL
mL
Cereals/Starch/Bread
Cereals: With Fruit
Desserts
Fruits/Juices
Meats, lean
Vegetables
Total per day
Total per kg
Percentage of energy
Comments:
____________________________________________________
Nutritionist
Protein Impaired
malnutrition urea cycle
Postprandial
hyperammonemia
Growth failure Nausea
Osteoporosis Protein aversion
Hepatomegaly Seizures
Stupor
Coma
Figure J. Metabolic and clinical effects of decreased LYS, ARG, and ORN transport (modified
from reference 30)
X. Sample Prescriptions
A. Establish and fill diet prescription for 4-month-old male weighing 6.2 kg using Recommended
Daily Nutrient Intakes from Table 11-1, p 216, and nutrient contents from Table 11-2, p 216.
B. Establish and fill diet prescription for 6-year-old girl weighing 20 kg using Recommended Daily
Nutrient Intakes from Table 11-1, p 216, and nutrient contents from Table 11-2, p 216.
1. Establish prescription:
L-CIT 6.0 g
Protein 20 g protein
Energy 2000 kcal
Fluid 2000 mL
2. Fill prescription:
Milk Substitute Mixture Measure L-CIT Protein Energy
(g) (g) (kcal)
Whole milk 236 mL --- 8.0 149
L-CIT solution1 60 mL 6.0 0.0 0
Pro-Phree 90 g --- 0.0 459
Add water to make 710 mL (24 fl oz). Offer additional fluid ad libitum daily
XI. Nutrition Support During Febrile Illness or Following Trauma Associated with Acute
Hyperammonemia
A. Rationale
1. In normal persons, febrile illness and trauma are accompanied by catabolism of body
protein (35).
2. Well-nourished patients with LPI respond to infection and trauma as do normal persons (29).
Warning: Prolonged use of protein-free (> 2 days) or low-energy diet will lead to protein
catabolism and rebound hyperammonemia.
3. Intravenous infusion of ORN, ARG, or CIT to correct for hyperammonemia has been
suggested (30).
Age Nutrient
Protein 1-3 Energy2 Fluid4
(g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 2.20 - 1.5 140 - 125 160 - 130
3 to < 6 mo 2.00 - 1.5 130 - 120 160 - 130
6 to < 9 mo 1.80 - 1.25 130 - 115 150 - 125
9 to < 12 mo 1.60 - 1.15 120 - 110 130 - 120
Women
11 to < 15 yr 30 - 40 1,575 - 3,150 1,575 - 3,150
15 to < 19 yr 40 - 45 1,260 - 3,150 1,260 - 3,150
> 19 yr 45 - 47 1,785 - 2,625 1,875 - 2,525
Men
11 to < 15 yr 30 - 42 2,100 - 3,885 2,100 - 3,885
15 to < 19 yr 42 - 49 2,200 - 4,095 2,200 - 4,095
> 19 yr 49 - 55 2,625 - 3,465 2,625 - 3,465
1
Modified from reference 5.
2
Modified from reference 6.
3
Protein intake may need to be increased if sodium benzoate, sodium phenylacetate, or sodium phenylbutyrate is
prescribed.
4
Modified from reference 1. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid
to children and adults for each kcal ingested.
TABLE 11- 2. Serving Lists for Protein-Restricted Diets: Approximate Protein And Energy Content Per
Serving
Heme
Oxalate
Porphyrin
Creatine
Pyruvate Glutathione
GCS
Bile acid conjugates; other conjugates
Oxaloacetate Alanine Kreb's Acetyl-CoA
Cycle
B. Establish and fill diet prescription for 6-year old girl weighing 20 kg using Recommended Daily
Nutrient Intakes from Table 12-1, p 226, and nutrient composition from Table 12-2, p 226, and
Appendix 11, p A-10.
1. Establish prescription
Protein = 20 g protein
Energy = 2,000 kcal
Fluid = 2,000 mL
2. Fill prescription
Medical Food Mixture Measure Protein Energy
(g) (kcal)
Whole cow's milk 236 mL 8.0 146
Pro-Phree ® 91 g 0.0 464
Add water to make 710 mL (24 fl oz). Offer additional fluid ad libitum daily.
Age Nutrient
1-3
Protein Energy2 Fluid4
(g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 2.20 - 1.5 140 - 125 160 - 130
3 to < 6 mo 2.00 - 1.5 130 - 120 160 - 130
6 to < 9 mo 1.80 - 1.25 130 - 115 150 - 125
9 to < 12 mo 1.60 - 1.15 120 - 110 130 - 120
Women
11 to < 15 yr 30 - 40 1,575 - 3,150 1,575 - 3,150
15 to < 19 yr 40 - 45 1,260 - 3,150 1,260 - 3,150
> 19 yr 45 - 47 1,785 - 2,625 1,875 - 2,525
Men
11 to < 15 yr 30 - 42 2,100 - 3,885 2,100 - 3,885
15 to < 19 yr 42 - 49 2,200 - 4,095 2,200 - 4,095
> 19 yr 49 - 55 2,625 - 3,465 2,625 - 3,465
1
Modified from reference 6.
2
Modified from reference 8.
3
Protein intake may need to be increased if sodium benzoate is prescribed.
4
Modified from reference 4. Under normal circumstances, offer minimum of 1.5 mL fluid and 1.0 mL fluid to children
and adults to neonates for each kcal ingested.
Table 12-2. Servings Lists for Protein-Restricted Diets: Approximate Protein and Energy Content per
Serving
Isoleucine
Methionine
Threonine
Valine
Odd-chain fatty acids (OCFA)
Excess polyunsaturated fatty acids (PUFA)
Biotin Adenosylcobalamin
D. Protein Status
1. Evaluate plasma transthyretin concentration every 3 months until 1 year of age and twice
yearly thereafter (Appendix 17, p A-18, for standards).
a. Plasma transthyretin concentrations provide a more reliable and rapid indication of protein
status than plasma albumin concentrations.
b. Plasma albumin concentrations may be in the normal range when plasma transthyretin
concentrations show a clear deficiency (3).
2. If plasma transthyretin concentration is below standard:
a. Increase prescribed protein by 5% to 10% and reevaluate plasma transthyretin
concentration in 1 month. If ILE, MET, THR, and VAL concentrations are in treatment
range, use Propimex to increase protein.
b. If plasma transthyretin concentration remains low, repeat above process until value is in
normal range.
242 Propionic Acidemia/Methylmalonic Acidemia © 2001 Ross Products Division
E. Iron Status
1. Plasma ferritin concentration.
a. Evaluate at 6, 9, and 12 months of age and every 3 months thereafter (Appendix 17,
p A-18, for standards).
b. If plasma ferritin concentration is below standard:
1) Increase iron intake to 4 mg/kg with supplements (ferrous sulfate).
2) Evaluate plasma ferritin concentration monthly on increased iron intake.
3) Continue iron supplements until plasma ferritin concentration is in normal range.
2. Complete blood count and differential.
a. Hemoglobin and hematocrit concentrations and differential should be evaluated at 6, 9,
and 12 months of age and every 6 months thereafter (Appendix 17, p A-18, for
standards).
b. Evaluate more frequently if anemia persists.
1) Persistent anemia suggests chronic elevation in toxic metabolites that inhibit stem cell
differentiation (20).
F. Plasma Carnitine Concentration
1. Plasma free carnitine concentration should be evaluated as necessary to maintain normal
concentration (≥ 30 µmol/L).
G. Growth Status
1. Length/height and weight.
a. Measure monthly to 1 year, every 3 months to 4 years of age, and every 6 months
thereafter. Plot measurements of infants and children on NCHS growth charts.
b. Maintain length/height and weight between 10th and 90th percentiles. Some normal
infants, children, and adults will fall above or below these percentiles.
2. If length/height or weight falls below usual growth channel:
a. Increase protein and energy prescriptions by 5% to 10% and remeasure after 1 month.
b. If length/height or weight remains low, repeat above process until usual growth channel is
achieved.
c. If patient remains below usual growth channel and does not respond to increase in protein
and energy or cannot consume diet prescribed through oral feedings, nasogastric or
gastrostomy tube feeding should be seriously considered (25, 30, 64).
H. Nutrient Intake
1. Maintain records of food intake for 3 days immediately before each blood test (Appendices 24
and 25, pp A-26 and A-27).
2. Evaluate intakes of ILE, MET, THR, VAL, protein, and energy before each blood test.
3. Evaluate mineral and vitamin intakes after each diet change.
a. Appendix 23, p A-25, may be used to check adequacy of nutrients if computer program is
not available.
b. See Appendix 28, p A- 29, for information about ordering software for diet evaluation.
Warning: Anorectic patients require gastrostomy tube feedings which may limit intake
if diets are not carefully planned. Gastrostomy tube feedings may improve
morbidity (25, 30, 64) when the patient cannot meet energy and nutrient
requirements by oral feeds.
I. Clinical Summary
1. A summary record of growth, laboratory, and nutrient intake data is useful for patient
management (Table 13-5, p 258).
Total per day 446 181 447 430 432 14.4 582
Total per kg 108 44 108 104 104 3.5 141
Approximate osmolarity of medical food mixture is < 375 mosm/L. Estimated potential renal solute
load ≤ 150 mosm.
B. Example 2
Establish and fill prescription for 6-year-old child weighing 19 kg using Recommended Daily
Nutrient Intakes from Table 13-1, p 241, and average nutrient contents from Tables 13-2 and 13-
3, pp 242 and 243.
1. Establish prescription.
ILE 690 mg/day
MET 255 mg
THR 650 mg
VAL 720 mg
L-carnitine (100 mg/kg) 1,900 mg
Protein 35.0 g
Energy 2,000 kcal
Fluid 2,000 mL
Age Nutrient
1,2 1,2 1,2 1,2 3 3 4
ILE` MET THR VAL Protein Energy Fluid
(mg/kg) (mg/kg) (mg/kg) (mg/kg) (g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 75 - 120 30 - 50 75 - 135 75 - 105 3.50 - 2.50 (130) 95 - 145 125 - 200
3 to < 6 mo 65 - 100 20 - 45 60 - 100 65 - 90 3.50 - 2.50 (125) 95 - 145 130 - 160
6 to < 9 mo 50 - 90 10 - 40 40 - 75 35 - 75 3.00 - 2.50 (120) 80 - 135 125 - 145
9 to < 12 mo 40 - 80 10 - 30 20 - 40 30 - 60 3.00 - 2.50 (115) 80 - 135 120 - 135
Women
11 to < 15 yr 965 - 1,470 390 - 780 830 - 1,195 1,105 - 1,655 ≥ 55.0 2,200 (1500 - 3000) 1,500 - 3,000
15 to < 19 yr 965 - 1,470 275 - 780 830 - 1,195 1,105 - 1,655 ≥ 55.0 2,100 (1200 - 3000) 1,200 - 3,000
≥ 19 yr 925 - 1,410 265 - 750 790 - 1,145 790 - 1,585 ≥ 50.0 2,100 (1400 - 2500) 1,400 - 2,500
Men
11 to < 15 yr 540 - 765 290 - 765 810 - 1,170 1,080 - 1,515 ≥ 50.0 2,700 (2000 - 3700) 2,000 - 3,700
15 to <19 yr 670 - 950 475 - 950 1,010 - 1,455 1,345 - 2,015 ≥ 65.0 2,800 (2100 - 3900) 2,100 - 3,900
≥ 19 yr 1,175 - 1,190 475 - 950 1,010 - 1,455 1,345 - 2,015 ≥ 65.0 2,900 (2000 - 3300) 2,000 - 3,300
1
Modified from references 1, 12, 38, and 72.
2
Initiate prescription with lowest recommended intake for age. Modify prescription based on frequently obtained plasma values and growth in
infants and children and frequently obtained plasma values and weight maintenance in adults.
3
Modified from references 14 and 53. When possible, initiate prescription with highest value. Modify prescription based on plasma
transthyretin concentration and weight.
4
From reference 5. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL to children and adults for each kcal
ingested.
Cereals, Dry
Barley 6 1 Tbsp + 2 tsp 27 13 23 37 0.8 23
Mixed 8 2 Tbsp 26 17 19 34 0.8 31
Oatmeal 4 1 Tbsp + 1 tsp 23 11 18 31 0.6 16
Oatmeal/banana 5 1 Tbsp + 2 tsp 26 10 23 34 0.7 24
Oatmeal/mixed fruit 6 1 Tbsp + 2 tsp 25 12 20 33 0.6 25
Rice 7 1 Tbsp + 2 tsp 25 17 17 34 0.6 27
Rice/apples 12 3 Tbsp 24 20 17 34 0.7 47
Rice/apple bits 10 2 Tbsp + 2 tsp 27 18 22 35 0.7 40
Rice/bananas 7 2 Tbsp 35 17 20 37 0.5 25
Rice/mixed fruit 9 2 Tbsp + 1-1/2 tsp 24 22 18 34 0.6 35
Cereals, Jarred
1st Foods ®
Oatmeal 36 2 Tbsp + 1-1/2 tsp 23 13 21 35 0.6 20
2nd Foods ®
Mixed/applesauce/bananas 74 5 Tbsp 26 15 17 35 0.7 64
Oatmeal/applesauce/bananas 56 4 Tbsp 27 12 12 35 0.7 46
Rice/applesauce 78 5 Tbsp + 1-1/2 tsp 26 20 15 35 0.6 71
3rd Foods ®
Mixed/apples/bananas 60 4 Tbsp 23 15 20 35 0.7 46
Oatmeal/apples/cinnamon 66 4 Tbsp + 2 tsp 26 15 19 35 0.7 44
Tender Harvest ™
Banana/oatmeal/peach 61 4-1/4 Tbsp 21 12 20 35 0.7 45
Butternut squash/corn 62 4 Tbsp + 1 tsp 29 19 20 35 1.2 31
Green beans/potatoes 28 2 Tbsp 27 15 23 35 0.6 18
Spring garden vegetables 64 4 Tbsp + 1-1/2 tsp 28 11 31 35 1.0 22
Vegetables
1st Foods ®
Peas 22 1 Tbsp + 1-1/2 tsp 29 9 31 35 0.7 11
Sweet potatoes 70 5 Tbsp 22 13 30 39 0.8 46
2nd Foods ®
Creamed corn 40 2-3/4 Tbsp 28 18 22 35 0.7 25
Creamed spinach 22 1 Tbsp + 1-1/2 tsp 31 16 26 35 0.7 10
Garden vegetables 35 2 Tbsp + 1-1/2 tsp 28 12 29 35 0.8 13
Peas 23 1 Tbsp + 1 tsp 29 9 31 35 0.7 11
Sweet potatoes 70 5 Tbsp 25 15 30 35 0.7 43
FRUITS/JUICES
1st Foods ®
Bananas 25 1 Tbsp + 2 tsp 7 5 7 15 0.3 25
Peaches 79 5 Tbsp + 1-1/2 tsp 11 6 11 15 0.6 34
Pears 115 8 Tbsp 12 9 12 15 0.5 66
Prunes 88 6 Tbsp 11 4 9 15 0.9 89
2nd Foods ®
Apples/pears 36 2 Tbsp + 1-1/2 tsp 9 5 8 15 0.3 30
Apricots/mixed fruit 79 5 Tbsp + 1-1/2 tsp 10 5 7 15 0.5 47
Bananas 25 1-3/4 Tbsp 10 5 7 15 0.3 22
Peach cobbler 150 10 Tbsp + 1-1/2 tsp 10 15 12 15 0.8 114
Peaches 79 5 Tbsp + 1-1/2 tsp 11 6 11 15 0.6 51
Pears 94 6 Tbsp + 1-1/2 tsp 11 6 8 15 0.5 70
Pear/pineapple 115 8 Tbsp 12 9 10 15 0.5 63
Plums/apples 125 8 Tbsp + 2 tsp 11 6 6 15 0.5 100
Prunes/apples 115 8 Tbsp 13 7 12 15 0.7 89
3rd Foods ®
Apricots/mixed fruit 79 5 Tbsp + 1-1/2 tsp 10 5 7 15 0.5 47
Bananas 25 1 Tbsp + 2 tsp 6 5 7 15 0.3 22
Banana/pineapple 34 2 Tbsp + 1 tsp 8 4 9 15 0.3 26
Banana/strawberry 32 2 Tbsp 8 4 6 15 0.3 30
Fruit salad 115 8 Tbsp 12 7 8 15 0.5 72
Hawaiian Delight dessert 23 1 Tbsp + 2 tsp 12 9 9 15 0.3 20
Peach cobbler 136 9 Tbsp + 1-1/2 tsp 11 12 11 15 0.7 105
Peaches 94 6 Tbsp + 1-1/2 tsp 11 8 12 15 0.7 60
Pears 94 6 Tbsp + 1-1/2 tsp 11 6 8 15 0.5 70
Plums/apples 73 5 Tbsp 7 3 7 15 0.3 50
Fruit Juice
Banana/strawberry juice medley 100 3-1/5 fl oz 12 11 10 15 0.4 58
Mixed 100 3-1/5 fl oz 11 11 10 15 0.3 48
Orange 200 6-1/4 fl oz 12 6 14 18 0.6 94
Tropical blend 100 3-1/5 fl oz 9 9 17 15 0.6 56
Fruit/Vegetable Juice
Apple/carrot 160 5 fl oz 8 5 10 14 0.3 69
Apple/sweet potato 115 3-2/3 fl oz 10 6 9 15 0.3 60
Tender Harvest ™
Apple/sweet potato 125 ND 11 5 14 15 0.4 79
Pear/wild blueberry 150 ND 24 5 8 15 0.6 92
Pears/winter squash 47 ND 12 8 10 15 0.5 24
Tropical fruit blend 52 ND 23 4 6 15 0.3 38
VEGETABLES
1st Foods ®
Carrots 67 1/4 cup + 2 tsp 15 7 15 20 0.6 23
250 Propionic Acidemia/Methylmalonic Acidemia © 2001 Ross Products Division
Food Weight Approximate ILE MET THR VAL Protein Energy
(g) Measure (mg) (mg) (mg) (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
Green beans 30 2 Tbsp 15 9 16 20 0.4 9
Potatoes 69 4 Tbsp + 2 tsp 22 10 14 35 0.7 32
Squash 53 3 Tbsp + 1 tsp 22 9 15 20 0.4 18
2nd Foods ®
Carrots 67 4 Tbsp + 2 tsp 15 7 15 20 0.5 20
Green beans 34 2 Tbsp + 1-1/2 tsp 15 7 15 20 0.4 10
Mixed vegetables 31 2 Tbsp 16 7 16 20 0.4 11
Squash 61 4-1/4 Tbsp 18 12 15 20 0.5 20
3rd Foods ®
Carrots 57 4 Tbsp 15 10 15 20 0.5 17
Green beans/rice 36 2 Tbsp + 1-1/2 tsp 15 9 14 20 0.4 15
Squash 77 5 Tbsp + 1 tsp 17 8 14 20 0.6 25
FREE FOODS A
Grains
Corn
cob, medium 21 1/3 ear 26 14 26 37 0.6 19
cooked
cream style 11 2 Tbsp 22 12 22 32 0.6 23
whole kernel 17 1 Tbsp + 2 tsp 23 12 23 33 0.6 18
Rice, prepared
brown 25 2 Tbsp + 3/4 tsp 24 14 23 36 0.6 29
fried 21 1 Tbsp + 1-1/2 tsp 25 14 21 33 0.5 27
pilaf 19 1 Tbsp + 3/4 tsp 28 15 22 35 0.7 28
Rice-A-Roni ® 26 1 Tbsp + 2 tsp 28 15 23 35 0.8 33
Spanish 36 2 Tbsp + 1 tsp 25 13 22 35 0.6 31
white
instant 25 2 Tbsp + 1 tsp 24 13 20 34 0.6 27
regular 29 2 Tbsp + 3/4 tsp 25 14 21 36 0.6 32
Pasta, cooked
Macaroni 18 2 Tbsp + 1/2 tsp 31 16 24 35 0.9 26
Noodles, egg 15 1 Tbsp + 1-1/2 tsp 30 11 26 36 0.6 19
Ramen ® Noodles 17 1 Tbsp + 2 tsp 29 15 23 34 0.9 37
Spaghetti 18 2 Tbsp 32 16 25 37 0.9 27
Tubers
Potatoes, sweet
baked, in skin (mashed) 31 2 Tbsp + 1-1/2 tsp 27 13 27 35 0.5 32
boiled, no skin (mashed) 34 1 Tbsp + 2 tsp 28 14 28 37 0.6 36
canned, packed in syrup 20 1/4 cup + 1 Tbsp 27 13 26 35 0.5 84
Miscellaneous
Chow mein noodles 10 1/4 cup 32 13 22 35 0.8 58
Ice cream cone, wafer type 9 2, cone only 30 16 24 35 0.9 33
Snack Foods
Barnum's Animal Crackers ® 13 5 crackers 30 15 23 35 0.9 56
Breadsticks 8 1-1/4 sticks 31 16 25 36 0.9 29
Cookies
chocolate chip 15 1-1/4 cookies 31 12 24 35 0.8 77
fig bars 20 1-1/4 bars 38 10 21 34 0.8 72
gingersnaps 16 2-1/4 cookies 30 15 24 35 0.9 66
oatmeal raisin 11 3/4 cookie 28 14 23 35 0.7 48
Oreo ® 16 1-1/2 cookies 25 12 21 31 0.8 80
sandwich 17 1-1/2 cookies 27 14 22 32 0.8 82
Sno Balls ® 28 2/3 cookie 31 15 24 36 0.8 98
Social Tea Biscuits ® 16 3 biscuits 31 16 24 36 0.9 72
sugar (buttery) 13 1 cookie 27 14 21 32 0.8 55
Sugar Wafers (Nabisco ®) 22 4 wafers 28 14 22 32 0.9 107
vanilla wafers 16 4 wafers 30 15 23 35 0.9 74
Crackers
Goldfish ®, original 13 21 crackers 31 15 24 36 0.9 62
graham crackers (2" x 2") 11 1-1/2 crackers 29 15 23 34 0.8 40
Melba toast 6 1 piece 26 13 20 30 0.8 20
Ritz ® 13 4 crackers 30 15 23 35 0.9 66
Ritz Bits ®, cheese 8 11-1/2 crackers 31 15 22 35 0.8 40
Rykrisp ® 6 1 piece 27 11 24 34 0.6 23
saltines 9 3 crackers 28 14 22 33 0.8 39
Triscuits ® 9 2 crackers 26 13 20 30 0.8 42
Waverly ® 12 1-3/4 crackers 30 16 24 35 1.0 60
Wheat Thins ® 13 7 crackers 30 16 24 35 1.0 60
Ding Dongs ® 31 2/3 roll 29 13 25 36 0.9 144
Doodads ®, original 3 2 Tbsp + 1-1/2 tsp 30 14 25 35 0.9 44
Doritos ® 11 6 chips 24 11 24 35 0.8 53
Doughnut, cake 14 1/3 doughnut 33 11 22 33 0.6 54
Fritos ® 11 5-1/2 chips 26 12 26 35 0.7 60
Ho Ho's ® 21 3/4 roll 32 16 25 38 0.9 89
Marshmallow puffs 29 1-1/2 puffs 30 15 25 37 1.0 122
Popcorn
buttered 7 3/4 cup 27 16 24 35 0.7 31
caramel 4 1/4 cup + 1 Tbsp 27 16 24 35 0.7 42
plain 2 14 Tbsp + 1-1/2 tsp 27 17 24 36 0.7 21
Potato chips 10 5 chips 26 10 23 36 0.6 52
Pringles ® chips, 11 6 chips 25 9 22 34 0.6 62
FATS
Gravy
beef, canned 2 1/2 tsp 4 2 4 4 0.1 1
brown, mix 1 2 tsp 4 2 3 5 0.1 3
chicken
canned 5 1 tsp 4 2 3 4 0.1 4
mix, dried 1 2 tsp 4 2 3 5 0.1 5
mushroom
canned 10 2 tsp 4 2 3 5 0.1 5
mix, dried 1 1 Tbsp 5 2 4 6 0.1 4
onion mix, dried 1 1 Tbsp 5 2 4 5 0.1 5
Margarine
imitation 5 1 Tbsp 5 2 3 5 0.1 50
soft 9 2 tsp 4 2 3 5 0.1 68
stick or brick 9 2 tsp 5 2 4 5 0.1 67
Nondairy creamer w/ sodium caseinate
liquid 10 2 tsp 6 2 4 6 0.1 14
powder 1 3/4 tsp 4 2 3 5 0.1 8
Rich's ® Coffee Rich 36 2 Tbsp + 1-1/2 tsp 5 1 4 5 0.1 55
Polyrich ® 36 2 Tbsp + 1-1/2 tsp 5 1 4 5 0.1 55
Olives
black 10 2 olives 4 2 4 5 0.1 18
green 10 2 olives 5 2 4 6 0.1 12
Salad dressings, commercial
Catalina 22 1/4 cup 5 1 6 5 0.3 290
French 13 2-1/2 tsp 4 2 4 5 0.1 56
Italian 16 3 Tbsp 4 2 4 5 0.1 65
Mayonnaise 7 1-1/2 tsp 5 2 4 5 0.1 50
Miracle Whip ® 21 1 Tbsp + 1-1/2 tsp 5 2 5 5 0.1 105
ranch 3 1/2 tsp 4 2 3 5 0.1 17
Russian 5 1 tsp 5 2 4 5 0.1 25
Thousand Island 8 1-1/2 tsp 4 2 4 4 0.1 29
tartar sauce 5 1 tsp 4 2 3 5 0.1 25
Toppings, commercial
Cool Whip ®
extra creamy 3 2 tsp 5 2 4 5 0.1 10
regular 5 1 Tbsp + 3/4 tsp 4 2 3 5 0.1 14
Richwhip ®
pressurized 7 3 Tbsp 5 2 5 5 0.1 60
prewhipped 3 2 Tbsp 5 1 4 5 0.1 24
FRUITS
Fruits are raw unless otherwise noted. Weight of raw fruits is only for parts that can be eaten. Drain canned, cooked, and frozen fruits before
measuring or weighing.
Apricots
canned, heavy syrup 27 1/4 cup + 1 Tbsp 13 2 15 15 0.4 67
dried
cooked, mashed 10 2 Tbsp 13 2 15 15 0.4 27
halves 11 3 12 2 14 14 0.4 25
nectar, canned 110 3-1/2 fl oz 12 2 15 15 0.4 61
whole 35 1 fruit 14 2 17 17 0.5 17
Avocados, all varieties, mashed 7 1 Tbsp + 1-1/2 tsp 15 8 14 21 0.4 35
VEGETABLES
Vegetables are raw unless otherwise noted. Weight of raw vegetables is only for parts that can be eaten. Drain canned, cooked, and frozen
fruits before measuring or weighing.
Soups, Campbell's ®, Condensed. Weigh or measure before diluting and dilute with water only.
Asparagus, Cream of 7 1 Tbsp + 1 tsp 16 7 13 19 0.4 14
Beef Broth 20 1 Tbsp + 1 tsp 20 12 20 22 0.5 3
Bouillon cubes
beef 2 2/3 cube 18 10 17 20 0.4 4
chicken 2 1/2 cube 18 9 15 17 0.4 5
Celery, Cream of 26 1 Tbsp + 2 tsp 16 6 12 19 0.3 19
Chicken
Broth 8 1-1/2 tsp 17 9 14 17 0.3 2
Cream of 16 1 Tbsp 21 10 16 22 0.4 15
Gumbo 21 1 Tbsp + 1 tsp 17 8 14 19 0.4 9
Noodle 5 1 Tbsp 19 9 16 21 0.5 9
Rice 10 2 tsp 15 8 12 16 0.3 5
FREE FOODS A
Limit to prescribed number of servings.
Beverages
Chocolate drink powder (Quik ®) 3 1 tsp 3 1 3 5 0.1 11
Juice
apple 248 8 fl oz 5 0 5 5 0.1 116
lemon 92 3 fl oz 4 2 5 6 0.4 19
lime 123 4 fl oz 4 1 4 5 0.3 26
tangerine 62 2 fl oz 3 1 4 5 0.3 31
Lemonade 508 16-1/2 fl oz 5 0 5 5 0.5 203
Nectar
papaya 173 5-1/2 fl oz 3 2 5 5 0.3 98
pear 125 4 fl oz 4 1 4 5 0.1 75
Desserts
Apple butter 9 1 Tbsp + 1 tsp 4 1 4 5 0.1 49
Chocolate
pudding mix 5 1-1/2 tsp 3 1 3 5 0.1 17
syrup (Hershey's ®) 5 3/4 tsp 3 1 3 5 0.1 10
Fruit bars, frozen
orange 24 1/3 bar 2 2 2 4 0.1 23
pineapple 37 1/2 bar 5 4 4 6 0.1 35
strawberry 74 1 bar 4 0 7 6 0.2 60
Fruit ice 9 2 Tbsp + 1 tsp 3 2 2 5 0.1 36
Fruit Roll-Ups ® 14 1 piece 4 1 5 5 0.2 55
Fun Fruits ® 51 2 pieces 4 2 2 5 0.2 200
Gelatin
dessert, prepared 15 1 Tbsp 3 2 4 6 0.2 9
pop 22 1/2 pop 4 2 4 6 0.3 16
Marshmallow 8 1 marshmallow 2 1 3 4 0.2 26
Marshmallow creme 21 1/4 cup + 3 Tbsp 4 3 3 5 0.6 198
Mocha Mix, frozen
chocolate 6 2 tsp 4 1 4 5 0.1 11
vanilla 8 1 Tbsp 5 1 4 5 0.1 17
M&M ®s, plain 1 1 piece 3 1 2 3 0.1 4
Raisins, chocolate covered 1 1 raisin 3 2 3 4 0.1 6
Sherbet, orange 6 1-1/2 tsp 4 2 3 5 0.1 8
Fruits/Fruit Products
Apples
canned w/ sugar 21 1/4 cup + 1 Tbsp 5 1 5 5 0.1 43
dried
cooked, chopped 4 2 Tbsp 4 1 4 5 0.1 26
uncooked 8 1/8 fruit 3 1 8 8 0.1 19
sauce
sweetened w/ sugar 64 1/4 cup 5 1 5 5 0.1 48
unsweetened 61 1/4 cup 4 1 4 5 0.1 26
whole 69 1/2 fruit 6 1 5 6 0.1 41
Cranberry sauce w/ sugar 20 3 Tbsp + 1-1/2 tsp 4 2 4 5 0.1 91
Fruit juice bar 52 1 bar 1 0 3 2 0.1 43
Guava sauce 15 3 Tbsp 5 1 5 5 0.1 16
Pie filling
apple 32 1/3 cup + 1 Tbsp 4 1 4 5 0.1 107
cherry 13 2 Tbsp + 1-1/2 tsp 4 2 4 5 0.2 41
peach 9 1 Tbsp + 2 tsp 3 2 3 4 0.1 30
strawberry 10 2 Tbsp 4 0 5 5 0.2 34
Miscellaneous
Barbecue sauce 5 1 Tbsp 6 1 6 6 0.3 12
Butterscotch chips 2 3 chips 4 2 3 4 0.1 9
Chocolate frosting 8 1-1/2 tsp 3 1 3 5 0.1 32
Coconut, dried
sweetened w/ sugar 2 1-1/2 tsp 3 2 3 5 0.1 12
unsweetened 1 1/2 tsp 2 1 2 4 0.1 6
Cornstarch 11 3 Tbsp + 1-1/2 tsp 4 2 4 5 0.1 114
Honey 14 2 Tbsp 4 0 2 4 0.1 128
Horseradish 1 1-1/2 tsp 4 1 3 5 0.1 1
Jams and preserves 30 1 Tbsp + 1-1/2 tsp 4 0 5 5 0.2 81
Marmalade 8 1 Tbsp + 3/4 tsp 3 3 2 5 0.1 62
FREE FOODS B
These foods contain little or no ILE, MET, THR, or VAL. They may be used as desired if patient is not overweight and if they do not depress
appetite for prescribed foods.
Beverages
Carbonated beverages
cola 123 4 fl oz 0 0 0 0 0.0 50
cream soda 124 4 fl oz 0 0 0 0 0.0 63
diet soda, sweetened w/ saccharine 118 4 fl oz 0 0 0 0 0.0 0
Dr Pepper ® 123 4 fl oz 0 0 0 0 0.0 50
ginger ale 122 4 fl oz 0 0 0 0 0.0 41
grape soda 124 4 fl oz 0 0 0 0 0.0 53
lemon-lime soda 123 4 fl oz 0 0 0 0 0.0 49
orange soda 124 4 fl oz 0 0 0 0 0.0 60
root beer 123 4 fl oz 0 0 0 0 0.0 50
Cranberry juice cocktail 127 4 fl oz 1 0 1 1 0.0 72
Exceed ® Energy Drink 124 4 fl oz 0 0 0 0 0.0 35
Fruit drink (Hi-C ®) 124 4 fl oz 0 0 0 0 0.0 58
Fruit juice drink 124 4 fl oz 0 4 3 3 0.1 62
Gatorade ® Thirst Quencher 121 4 fl oz 0 0 0 0 0.0 30
Kool-Aid ®, sweetened w/ sugar 123 4 fl oz 0 0 0 0 0.0 49
© 2001 Ross Products Division Propionic Acidemia/Methylmalonic Acidemia 261
Food Weight Approximate ILE MET THR VAL Protein Energy
(g) Measure (mg) (mg) (mg) (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
Orange drink powder (Tang ®) 16 1/4 cup 1 0 1 1 0.0 187
Strawberry drink powder (Quik ®) 3 1 Tbsp 0 0 0 0 0.0 33
Desserts/Sweeteners
Candies
candy corn 16 10 pieces 0 0 0 0 0.0 58
gumdrops 20 10 pieces 0 0 0 0 0.0 69
hard candy 15 3 pieces 0 0 0 0 0.0 58
jelly beans 17 6 pieces 0 0 0 0 0.0 62
Jellies 20 1 Tbsp 0 0 0 0 0.0 54
Popsicle ®, twin 128 1/2 popsicle 0 0 0 0 0.0 95
Pudding
lemon, canned (Hunt's ®) 121 1 container 0 0 0 0 0.0 151
vanilla mix, dried 4 1 Tbsp 0 0 0 0 0.0 40
Tapioca, dry 10 1 Tbsp 1 1 1 2 0.1 36
Miscellaneous
Frosting
strawberry 15 1 Tbsp 0 0 0 0 0.0 69
vanilla 16 1 Tbsp 0 0 0 0 0.0 69
Molasses 7 1 Tbsp 0 0 0 0 0.0 48
Oil, vegetable (except olive) 14 1 Tbsp 0 0 0 0 0.0 120
Richwhip ® liquid 5 1 Tbsp 0 0 0 0 0.0 40
Salad dressing, oil/vinegar 5 1 Tbsp 0 0 0 0 0.0 70
Shortening 4 1 Tbsp 0 0 0 0 0.0 113
Sugar
brown 14 1 Tbsp 0 0 0 0 0.0 52
powdered 3 1 Tbsp 0 0 0 0 0.0 31
table 12 1 Tbsp 0 0 0 0 0.0 48
Syrup
corn 20 1 Tbsp 0 0 0 0 0.0 58
maple 20 1 Tbsp 0 0 0 0 0.0 50
table 7 1 Tbsp 0 0 0 0 0.0 50
1
See Appendix 12, p A-11, for Nutrient Composition of very low protein foods.
ATP
Galactokinase
ADP
P~P UTP
Galactose-1-P*
UDP - Galactose
Pyrophosphorylase
UDP - glucose
GALT
Epimerase UDP - galactose
E. Diet Guide
1. Provide parents, caretakers, or patient with completed Diet Guide (Appendix 22, p A-24) with
each diet change.
X. Sample Prescription
A. Example 1
Establish and fill prescription for newborn who weighs 3.5 kg using Recommended Daily
Nutrient Intakes from Table 14-1, p 269, and average nutrient contents from Table 14-3, p
274.
1. Establish prescription.
Protein 3.0 g/kg x 3.5 kg = 10.5 g
Energy 120 kcal/kg x 3.5 kg = 420 kcal
Fluid 150 mL/kg x 3.5 kg = 530 mL
2. Fill prescription.
Medical Food Mixture Measure Protein Energy
(g) (kcal)
Isomil powder mixed to 20 kcal/fl oz 618 mL 10.2 420
(21 fl oz)
Age Nutrient
1
Protein Energy1 Fluid2
(g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 3.50 - 3.00 120 (145 - 95) 150 - 125
3 to < 6 mo 3.50 - 3.00 115 (145 - 95) 160 - 130
6 to < 9 mo 3.00 - 2.50 110 (135 - 80) 145 - 125
9 to < 12 mo 3.00 - 2.50 105 (135 - 80) 135 - 120
Women
11 to < 15 yr ≥ 50.0 2,200 (1500 - 3000) 1,500 - 3,000
15 to < 19 yr ≥ 50.0 2,100 (1200 - 3000) 1,200 - 3,000
≥ 19 yr ≥ 50.0 2,100 (1400 - 2500) 1,400 - 2,500
Men
11 to < 15 yr ≥ 55.0 2,700 (2000 - 3700) 2,000 - 3,700
15 to < 19 yr ≥ 65.0 2,800 (2100 - 3900) 2,100 - 3,900
≥ 19 yr ≥ 65.0 2,900 (2000 - 3300) 2,000 - 3,300
1
Modified from reference 23.
2
Modified from reference 6. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid
to children and adults for each kcal ingested.
BEVERAGES
Carbonated drinks Apple juice 14 Buttermilk, coffee
Drinks that do not contain lactose Beer 11 Drinks that contain whole milk, skim milk,
Fruit drinks that do not contain apple, Champagne 12 nonfat dried milk, and/or evaporated or
banana, orange, papaya, pineapple Orange juice 19 condensed milk
and/or pear juices Pear juice 7 Drinks containing calcium caseinate or
Health Source™ Soy Protein Shake sodium caseinate
Isomil ®, Soy Formula With Iron Hot chocolate
(powder) Imitation or filled milks
Non-dairy creamer with approved Kefir, Ovaltine ®, and malted milk
ingredients Milk, untreated of any species
Tea Milk treated with Lactobacillus acidophilus
culture or lactase (Lactaid ®)
Papaya juice
Powdered soft drinks with lactose
Soy milk containing carrageenan
Soy milk made with soy flour
Watermelon juice
Wine 46
24
DESSERTS
Angel food cake Any dessert containing chocolate
Cakes, cookies, & pies made from Any dessert containing a questionable food
allowed ingredients Banana bread
Gelatin Chocolate syrup 23
Ice cream or puddings made with Cocoa
water or soy protein isolate Commercially baked cakes, cookies & pies
formula Custard
Water and fruit ices made from Fig Newtons
allowable fruits Ice cream made with milk
Pie crust made with lard or Packaged cake, pie, or cookie mixes 22
shortening containing milk or milk products
Popsicles ® Persimmon cookies
Pudding mixes without milk Pie crust made with butter or margarine
Sorbets made with allowed fruits Puddings made with milk
Sherbet
EGGS
Egg <5 Omelets, soufflés, and other dishes with
Egg Beaters ® added milk
FATS
Animal fat Butter 30
Bacon Cream
Margarines without milk or soy in any Sour cream
form Whipping cream
Mayonnaise
Nondairy coffee creamers free of milk
products or soy products
Oils, vegetable shortening
FRUITS/JUICES
Avocado 1 Apples 9 Applesauce 44
Cherries 3 Apple juice 14 Apricots 32
Fruit cocktail 3 Apple chips 15 Blackberries ND
Grapefruit, raw or juice 4 Banana 10 Blueberries 34
Grapes, green 3 Dates 11 Boysenberries ND
Mango 4 Kiwi and juice 10 Cranberries ND
Nectarines 4 Melon, watermelon 17 Currants ND
Melon, cantaloupe <5 Orange 5 Figs, dried 4100
Strawberries <5 Orange juice 19 Fruit salad ND
Peaches 6 Fruit salad, tropical ND
Pears 9 Gooseberries ND
Plantains 9 Grapes
Plums, purple 7 American ND
Plums, red 6 European 400
Raisin, Golden, seedless 10-15 Grape juice ND
Raspberries 10 Guava ND
Lemons, limes ND
Melon
Casaba ND
Honeydew 29
Persian ND
Mixed fruit ND
Papaya 31
Persimmon, American 38
Persimmon, Japanese ND
Pineapple 22
Prunes ND
Rhubarb ND
Tangerines ND
Watermelon juice 46
GRAINS/GRAIN PRODUCTS
Barley Wheat 6 All packaged grain or flour mixes
Buckwheat containing milk or milk products or soy
Corn, sweet flour
Corn grits, meal, starch
Hominy
Oats
Pasta (macaroni, noodles, spaghetti)
Rice
Rye
SNACK FOODS
Crackers, popcorn, potato chips, & Apple chips 15 All foods containing milk products
pretzels free of milk products Banana bread 23
Graham crackers Fig Newtons ® 22
Plain saltines
Soda crackers
SUGARS/SWEETENERS
Beet and cane sugar Honey 7 Apple butter, apple jelly, caramel candy
Corn syrup Jellies and marmalades Equal ® tablets/other artificial sweeteners
Jellies and marmalades containing containing limited fruits containing added lactose
allowed fruits Jellies and marmalades containing
Jelly beans excluded fruits
Licorice Toffee
Maple syrup, molasses
Nutrasweet ® liquid
Saccharin powder or liquid
Taffy
VEGETABLES/JUICES
Fresh, canned, or frozen: Any vegetable to which Frozen French fries/hash browns
Artichokes 0 lactose is added during containing added lactose
Asparagus 2 processing Pizza sauce, no milk 20
Bamboo shoots 0 Breaded, buttered, or Tomatoes, raw 25
Bean sprouts, green <5 creamed vegetables Tomatoes
Beets 1 Bell peppers 11 Paste 66
Cabbage 4 Broccoli 8 Sauce 77
Cauliflower <5 Brussels sprouts 10 Stewed 40
Celery 3 Carrots 7 V-8 juice 38
Chard, Swiss ND Corn curls ND
Corn, sweet 4 Eggplant 5
Cucumber 4 Instant white potatoes 6
Kale 3 Leeks and onions 6
Lettuce 3 Peas, green 6
Mushrooms, common 0 Pumpkin 12
Mustard greens ND Sauerkraut 16
Olives, green 0 Snap beans 5
Okra ND Sweet potatoes 8
Parsley ND Tomato soup, no milk 18
Peppers, hot 3 Turnip, parsnips 6
Potato, white 1 Yams 11
Radishes <1
Spinach <1
Squash, zucchini 3
INGREDIENTS/MISCELLANEOUS
Caramel coloring Baker's ® cocoa, cocoa Bean-O ®
Gravy made with water powder, semisweet Butterscotch and milk chocolate
Lactate, lactic acid, lactylate chocolate, Carrageenan
Olives Carob powder Dietetic foods containing milk products
Pure monosodium glutamate (MSG) Catsup 6 Drugs, mineral and vitamin preparations
Pure seasonings and spices Lactoalbumin, lactoglobulin containing lactose
Vegetable gums including gum Vegetable gums, including Hydrolyzed protein
Arabic, guar acacia, agar, locust Mocha
Worcestershire sauce bean, tragacanth, or Monosodium glutamate (MSG) extender
xanthan Neocalglucon ® (a calcium supplement)
Peppermint, toffee
Spice blends containing lactose
Because of incomplete analysis on free and bound galactose in foods, this list should be considered
transitional and subject to change.
From references 1, 2, 5, 11-13, 18, 25, 26-36, 39, 45, 47, 49, 52-56, 61, 67-69, 74, 81.
van Calcar S: Free galactose in foods. Unpublished data.
Muscle meat may need to be restricted based on data from reference 79.
ND = No data.
Medications: Supplements
1
Indicate if mg/dL or µg/g of hemoglobin, EG1P = erythrocyte GAL-1-phosphate.
REFERENCES
1. Acosta PB: Hidden sources of galactose in the environment. Eur J Pediatr 1995;154 (Suppl 2): 587-592.
2. Aman P: Carbohydrates in raw and germinated seeds from mung bean and chick pea. J Sci Food Agric
1979;30:869-875.
3. Andersson L, Bratt C, Arnoldsson KC, et al: Hydrolysis of galactolipids by human pancreatic lipolytic enzymes and
duodenal contents. J Lipid Res 1995;36:1392-1400.
4. Asp N-G: Human small-intestinal ß-galactosidases. Separation and characterization of three forms of an acid
ß-galactosidase. Biochem J 1971;121:299-308.
5. Aspinall GO, Cottrell IW: Polysaccharide of soybeans. VI. Neutral polysaccharides from cotyledon meal. Can J
Biochem 1971;49:1019-1022.
6. Behrman RE, Kliegman RM, Arvin AA (eds): Nelson Textbook of Pediatrics, ed 15. Philadelphia: WB Saunders Co,
1996.
7. Berry GT, Nissin I, Lin Z, et al: Endogenous synthesis of galactose in normal men and patients with hereditary
galactosaemia. Lancet 1995;346:1073-1074.
8. Berry GT, Wehrli W, Reynolds R, et al: Elevation of erythrocyte redox potential linked to galactonate biosynthesis.
Metabolism 1998;47:1423-1428.
9. Beutler E: Galactosemia: Screening and diagnosis. Clin Biochem 1991;24:293-300.
10. Bohles H, Wenzel D, Shin YS: Progressive cerebellar and extra-pyramidal motor disturbances in galactosaemic
twins. Eur J Pediatr 1986;145:413-417.
11. Carter HE, Hendry RA, Stanacev NZ: Wheat flour lipids. III. Structure of the mono- and di-galactosylglycerol lipids.
J Lipid Res 1961;2:223-227.
12. Cegla GF, Bell KR: High pressure liquid chromatography for the analysis of soluble carbohydrates in defattened
oilseed flours. J Am Oil Chem Soc 1977;54:150-152.
13. Cerbulis J: Sugars in Caracas cacao beans. Arch Biochem Biophys 1954;49:442-450.
14. Charlwood J, Clayton P, Keir G, et al: Defective galactosylation of serum transferrin in galactosemia. Glycobiol
1998;8:351-357.
15. Cleary MA, Heptinstall LE, Wraith JE, Walter JH: Galactosaemia: Relationship of IQ to biochemical control and
genotype. J Inher Metab Dis 1995;18:151-152
16. Date C, Tanaka H, Yoshikawa K, et al: Determination of sugars in daily foods by high pressure liquid
chromatography and gas liquid chromatography. Osaka City Med J 1982;28:67-83.
17. Donnell GN, Bergren WR, Perry G, Koch R: Galactose 1-phosphate in galactosemia. Pediatrics 1963;31:802-810.
18. Dubois M, Geddes WF, Smith F: The carbohydrates of the gramineae. X. A quantitative study of the carbohydrates
of wheat germ. Cereal Chem 1960;37:557-568.
19. Dunger DB, Holton JB: Disorders of carbohydrate metabolism. In Holton JB (ed): The Inherited Metabolic
Diseases. New York: Churchill Livingstone, 1987.
20. Elsas LJ, Acosta PB: Nutrition support of inherited metabolic diseases. In Shils ME, et al (eds): Modern Nutrition in
Health and Disease, ed 9. Baltimore: Williams & Wilkins, 1999, pp 1003-1056.
21. Elsas LJ, Fridovich-Keil J, Leslie ND: Galactosemia: A molecular approach to the enigma. Intl Pediatr
1993;8(1):101-109.
22. Fishler K, Donnell GN, Bergren WR, Koch R: Intellectual and personality development in children with
galactosemia. Pediatrics 1972;50:412-419.
23. Food and Nutrition Board, Committee on Dietary Allowances: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989.
24. Friedman JH, Levy HL, Boustany RM: Late onset of distinct neurologic syndromes in galactosemic siblings.
Neurology 1989;39:741-742.
25. Fry SC: Phenolic components of the primary cell wall. Feruloylated disaccharides of D-galactose and L-arabinose
from spinach polysaccharide. Biochem J 1982;203:493-504.
26. Fujino Y, Sakata S: Glyceroglycolipids in rice grain. Cereal Chem 1973;50:379-382.
27. Gdala J, Buraczewska L: Chemical composition and carbohydrate content of several varieties of faba bean and
pea seeds. J Animal Food Sci 1997;6:123-135.
28. German Galactosemia Parents Group: Galactose Content of Foods.
29. Gropper SS, Gross KC, Olds SJ: The galactose content of selected fruits and vegetable baby foods: Implications
for infants on galactose-restricted diets. J Amer Diet Assoc 1993;93:328.
30. Gropper S, Weese JO, West PA, Gross KC: Free galactose content of fresh fruits and strained fruit and vegetable
baby foods: More foods to consider for the galactose-restricted diet. J Amer Diet Assoc 2000;100:573-575.
31. Gross KC, Acosta PB: Fruits and vegetables are a source of galactose: Implications in planning the diets of
patients with galactosaemia. J Inher Metab Dis 1991;14:253-258.
32. Gross KC, Weese SJ, Johnson JJ, Gropper SS: Soluble galactose content of selected baby food cereals and
juices. J Food Comp Anal 1995;8:319-323.
33. Harju M: Lactobionic acid as a substrate of ß-galactosidases. Milchwissenschaft 1990;45:411-415.
PK LDH
Glucose PEP Pyruvate* Lactate*
PC AAT
PEPCK Biotin PDH
Thiamin Alanine*
284 Glucose Transport Protein Defect, PDH Complex Deficiency, and Intractable Seizures © 2001 Ross Products Division
PDH deficiency, a commonly recognized cause of lactic acidosis (11, 34), inhibits the normal
oxidative metabolism of carbohydrate and prevents production of the majority of ATP. This enzyme
complex contains several functional catalytic proteins; E1α, E1ß, E2, E3, and protein X (56). This
protocol discusses treatment of deficiencies of E1α or E1ß subunits. A defect in a functional
component of the PDH enzyme results in mild to severe lactic acidosis and elevated plasma ALA
and pyruvate concentrations. Age of clinical presentation varies from neonatal to early childhood.
Individuals presenting as neonates suffer severe lactic acidemia and have lower enzyme activity
than individuals presenting in childhood.
Outcome of Nutrition Support of PDH Deficiency
The severity of lactic acidemia is a function of severity of the PDH defect. Patients presenting as
neonates suffer the most severe lactic acidemia and usually die by 6 months of age (7, 34, 56).
Children presenting later in life have greater residual enzyme function and milder phenotype. They
have moderate lactic acidemia, transient acid-base perturbations, and psychomotor retardation. A
percentage of these patients will die before age 3 years. Cerebral atrophy has been reported in
many patients presenting neonatally and in some children with psychomotor retardation (62).
The heterogeneity associated with severe lactic acidemia makes it difficult to predict
outcome. Although patients with higher residual enzyme activity appear to have a less severe
phenotype than patients with less enzyme activity, there is no good correlation between residual
enzyme activity and morbidity and mortality (56).
Use of dichloroacetate (DCA), an inhibitor of PDH kinase that maintains activity of PDH, can
reduce cerebral lactate and CSF concentrations of lactate and pyruvate (67, 70). Use of DCA is
beneficial in eliminating or reducing seizures, infantile spasms, and myoclonic seizures (38, 67).
Efficacy of a ketogenic diet is not well established. Kerr (32) reported reduced concentrations
of blood lactate and "probable" increased life span in two brothers with PDH deficiency. Initiation of
a ketogenic diet at an early age may improve neurologic function and delay death (9, 22, 56, 73).
Thiamin-responsive PDH has been described in several patients (51, 58) with decreased blood
lactate, increased residual enzyme activity in cultured fibroblasts and lymphocytes (51), and
improved facial muscle strength (58).
C. Intractable Seizures
Ketogenic diets high in dietary fat (ie, 87-92% of total energy) are used to control intractable
seizures when other methods of treatment fail. Both long-chain-fats and medium-chain-fats are used
in ketogenic diets with similar success in controlling seizures (19, 25, 31,35, 53, 59, 60). Use of
ketogenic diets in treating seizures was based on early observations that starvation depressed
seizure activity. In 1921, Wilder proposed a high-fat diet to mimic starvation (75). Diet therapy is
most effective for control of myoclonic seizures, infantile spasms, and atonic/akinetic seizures.
Variable success has been found in refractory seizures (54).
The mechanism of antiepileptic action of the ketogenic diet is unknown. Several theories have
been presented, including acid-base disturbances, increased serum lipids, and increased ratio of
adenosine triphosphate (ATP) to adenosine diphosphate (ADP) in the brain (16, 18). Neither an
excitatory nor an inhibitory effect of ketone bodies on neurotransmission has been shown (69).
Outcome of Nutrition Support of Intractable Seizures
Livingston (43) reported complete control of myoclonic seizures in 54% of his patients and
reduction of seizures in another 26% of patients placed on ketogenic diets. Others have reported
similar success showing that approximately 50% of patients with intractable seizures have
improvement or elimination of seizures (26, 35, 53, 59, 72). Adults do not respond to diet as well
as children (53, 54), but the ketogenic diet may be effective in adults with generalized and partial
epilepsy (63). Length of time to clinical response on the ketogenic diet varies from days to weeks
(3, 19, 25, 27, 35, 53, 59). Recommendations for length of time to maintain diet differ, but most
clinicians recommend that diet continue for 2 years. Most patients who respond positively to diet
either remain seizure-free or have continued improvement upon cessation of diet.
Reported complications associated with diet are numerous. These include reduced bone mass,
renal calculi (29), lipemia retinalis, cardiovascular complications (6), pancreatitis, impaired
neutrophil function (77), hypoalbuminemia (2), hypertriacylglycerolemia (68), constipation, anorexia,
dehydration, and refractory vomiting (2). Use of predominantly high-fat food as the mainstay of the
ketogenic diet results in decreased nutrient intake, often requiring carbohydrate-free mineral/vitamin
© 2001 Ross Products Division Glucose Transport Protein Defect, PDH Complex Deficiency, and Intractable Seizures 285
supplements. Compliance to the ketogenic diet may be poor. Success is dependent on a
multidisciplinary approach, constant supervision, and encouragement of families and patients.
286 Glucose Transport Protein Defect, PDH Complex Deficiency, and Intractable Seizures © 2001 Ross Products Division
8. Maintain normal bowel function.
9. Provide sufficient vitamin D, calcium, and phosphorus to maintain adequate bone mass (29).
B. Plasma Carnitine Concentration
1. Maintain normal concentration of plasma free carnitine ≥ 30 µmol/L (13).
C. PDH Deficiency Only
1. Maintain normal plasma concentrations of ALA, lactate, and pyruvate as determined by
laboratory used.
2. Maintain CSF pyruvate concentrations between 40 and 150 µm (56).
Warning: Plasma pyruvate concentrations are difficult to ascertain. Proper laboratory
methods are essential for interpreting data.
V. Establish Prescription
A. Diet
1. Energy.
a. Prescribe amount that should support normal weight gain in infants and children and
appropriate weight for height in adults (Table 15-1, p 288).
b. For patients with intractable seizures, energy intakes of 75% to 125% of Recommended
Dietary Allowances (RDAs) (24) have been used to maintain ketosis (19, 25, 35, 53, 59,
60).
2. Fat.
a. Prescribe 87% to 92% of energy as fat (ie, 3:1-5:1 ratio of fat:carbohydrate plus protein).
3. Protein.
a. Prescribe between 8% and 13% of energy as protein (Table 15-1, p 288).
Warning: Long-term Inadequate protein intake will result in failure to thrive in infants,
weight loss in children, low plasma transthyretin concentration, osteopenia,
and hair loss. Hypoalbuminemia has been described in patients on ketogenic
diets (2, 10).
4. Carbohydrate.
a. Prescribe carbohydrate to provide remaining energy.
5. L-Carnitine.
a. Prescribe sufficient carnitine to maintain normal plasma free carnitine concentrations.
b. For patients with PDH deficiency, 50-100 mg/kg has been used (33, 71).
Warning: High intakes of L-carnitine may interfere with ketogenesis (53).
6. Thiamin (PDH deficiency only)
a. Prescribe pharmacologic amount.
b. Amounts ranging from 100 to 1800 mg/day have been recommended (7, 9, 21, 51, 55,
74).
7. Fluid
a. Provide amount that will supply water requirements (Table 15-1, p 288). Under normal
circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid to children
and adults for each kcal ingested (4).
b. Some physicians recommend restriction of fluid (800-1200 mL/day) to accelerate ketosis
in children with intractable seizures (25, 27, 35). Others have reported maintenance of
ketosis with adequate fluid intakes (19, 53).
Warning: Over-restriction of fluid may lead to dehydration, constipation, renal calculi,
and acid-base disturbances.
B. Drugs
1. Bicarbonate (PDH deficiency only).
a. Prescribe amount that, with diet and citrate, maintains normal blood pH.
b. Amounts prescribed by various investigators are given below:
1) 10 mmol/kg/day (8).
2) 100 mEq/day (11).
3) 1 mEq/kg/day.
4) 15 mEq every 4 hours (33).
© 2001 Ross Products Division Glucose Transport Protein Defect, PDH Complex Deficiency, and Intractable Seizures 287
2 DCA (PDH deficiency/lactic acidemia only).
a. Investigational New Drug application required or contact clinicians listed in Table 15-2,
p 288, for referral of patients.
b. Dosage of DCA for treatment of lactic acidosis ranges from 15 mg/kg every 2 days to
150 mg/kg daily (40, 41, 49, 55). Sufficient inhibitory effect of DCA on PDH kinase without
toxic effects has been achieved at a dose of approximately 50 mg/kg/day (34).
c. Plasma DCA concentrations should be routinely monitored to prevent toxicity (40).
3. Antiepileptic medication (if applicable).
a. Modify as needed after initiation and stabilization of ketosis.
b. Many patients with intractable seizures can be weaned from antiepileptic medications
after ketosis is stabilized and patient has shown decreased number of seizures or
complete seizure control.
Warning:
• Many medications contain carbohydrate as inert ingredient (23, 42).
Carbohydrate content of medications change frequently. Contact
manufacturers with each new prescription for accurate, up-to-date information.
• Barbiturates may be contraindicated for patients with GLUT1 deficiency (36).
288 Glucose Transport Protein Defect, PDH Complex Deficiency, and Intractable Seizures © 2001 Ross Products Division
Warning: Liquid L-carnitine may contain carbohydrate.
290 Glucose Transport Protein Defect, PDH Complex Deficiency, and Intractable Seizures © 2001 Ross Products Division
D. Carnitine Status
1. Measure free plasma carnitine concentration every 3 months until patient is 12 months of age
and every 6 months thereafter.
2. If free carnitine concentration is < 30 µmol/L or below normal for laboratory used, increase
amount of carnitine prescribed by 5% to 10%.
E. Iron Status
1. Plasma ferritin concentration.
a. Evaluate at 6, 9, and 12 months of age and every 6 months thereafter (Appendix 17,
p A-18, for standards).
b. If plasma ferritin concentration is below standard:
1) Increase iron intake to 2 mg/kg with supplements (carbohydrate-free ferrous sulfate ).
2) Evaluate plasma ferritin concentration monthly on increased iron intake.
3) Continue iron supplements until plasma ferritin concentration is in normal range.
2. Complete blood count.
a. Evaluate hemoglobin and hematocrit concentration at 6, 9, and 12 months of age and
every 6 months thereafter (Appendix 17, p A-18, for standards).
F. Blood Glucose Concentrations
1. Transient hypoglycemia may occur during initial phase of ketogenic diet.
a. Some researchers recommend no treatment unless blood glucose concentrations are
< 40 mg/dL and symptoms occur (25, 53, 60).
1) Symptoms include paleness, sweaty forehead, excess sleep, rapid pulse, dizziness,
and nausea.
2) If symptoms are present, offer 40 mL orange juice (approximately 5 g CH2O) or other
simple carbohydrate (eg, liquid glucose) and recheck blood glucose in 1 hour.
3) If symptoms persist, offer another 40 mL orange juice (approximately 5 g CH2O) or
simple carbohydrate and recheck.
b. During initiation of fasting or diet, monitor blood glucose every 4-6 hours for first 48 to
72 hours and periodically for several days thereafter (19).
Warning: Amount of carbohydrate offered may be greater than 5 g depending on blood
glucose concentration and severity of symptoms.
G. Growth Status
1. Length/height and weight.
a. Measure monthly to 1 year of age, every 3 months to 4 years, and every 6 months
thereafter. Plot measurements on NCHS growth charts.
b Maintain length/height and weight between 10th and 90th percentiles. Some normal
infants and children will fall above or below these percentiles.
2. If length/height or weight falls below usual growth channel:
a. Increase protein and energy prescriptions by 5% to 10% and remeasure in 1 month.
b. If length/height or weight remains low, repeat process until usual growth channel is
achieved.
H. Nutrient Intake
1. Maintain records of food intake for 3 days immediately before each blood test (Appendices 24
and 25, pp A-26 and A-27).
2. Evaluate intakes of protein, fat, and energy weekly or as needed to meet nutrition goals.
3. Evaluate mineral and vitamin intakes after each diet change.
a. Appendix 23, p A-25, may be used to check adequacy of nutrients if computer program is
not available.
b. See Appendix 28, p A-29, for information about ordering software for diet evaluation.
I. Hydration Status
1. Young infants and children cannot verbalize thirst and must be closely monitored.
2. Monitor urine for hydration status.
3. For some patients with intractable seizures, restriction of fluid may be necessary to maintain
urine specific gravity between 1.020 and 1.025 (27).
4. Carefully monitor hydration status during hot summer months.
© 2001 Ross Products Division Glucose Transport Protein Defect, PDH Complex Deficiency, and Intractable Seizures 291
J. Clinical Summary
1. A summary record of growth, laboratory, and nutrient intake data is useful for patient
management (Table 15-6, p 292).
X. Sample Prescription
A. Example
Establish and fill prescription for 1 year old weighing 9.8 kg using Recommended Daily Nutrient
Intakes from Table 15-1, p 288, and average nutrient contents from Tables 15-3 and 15-4, pp 289
and 290 and Appendix 10, p A-9.
1. Establish prescription for a 3:1 fat:carbohydrate + protein ketogenic diet
Energy 105 kcal/kg x 9.8 kg = 1,029 kcal/day
Protein 1,029 kcal x 0.10 = 103 kcal ÷ 4 kcal/kg = 25.7 g
Fat 1,029 kcal x 0.87 = 895 kcal ÷ 9 kcal/g = 99.5 g
Carbohydrate 1,029 kcal x 0.03 = 31 kcal ÷ 4 kcal/kg = 7.7 g
Fluid 105 mL/kg x 9.8 kg = 1,029 mL/day
2. Fill prescription using RCF:
Food List Measure Protein Fat Carbohydrate Energy
(g) (g) (g) (kcal)
RCF Concentrate 642 mL 25.7 46.2 0.05 520
Soy oil 59 mL 0.0 53.7 0.00 473
Polycose powder 8.2 g 0.0 0.0 7.70 31
Add water to make 1,029 mL (35 fl oz)
292 Glucose Transport Protein Defect, PDH Complex Deficiency, and Intractable Seizures © 2001 Ross Products Division
TABLE 15-1. Recommended Daily Nutrient Intakes (Average and Ranges) for Infants and Children with
Seizures 1
Age Nutrient
2
Fat Protein Energy Fluid 3
(% of Energy) (% of Energy) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 87 - 92 8 - 13 120 (145 - 95) 150 - 125
3 to < 6 mo 87 - 92 8 - 13 115 (145 - 95) 160 - 130
6 to < 9 mo 87 - 92 8 - 13 110 (135 - 80) 145 - 125
9 to < 12 mo 87 - 92 8 - 13 105 (135 - 80) 135 - 120
Women
11 < 15 yr 87 - 92 8 - 13 2,200 (1500-3000) 1,500 - 3,000
15 < 19 yr 87 - 92 8 - 13 2,100 (1500-3000) 1,200 - 3,000
> 19 yr 87 - 92 8 - 13 2,100 (1400-2500) 1,400 - 2,500
Men
11 < 15 yr 87 - 92 8 - 13 2,700 (2000-3700) 2,000 - 3,700
15 < 19 yr 87 - 92 8 - 13 2,800 (2100-3900) 2,100 - 3,900
> 19 yr 87 - 92 8 - 13 2,900 (2000-3300) 2,000 - 3,300
1
Modified from references 35, 53, and 59.
2
87-92% energy as fat calculates to a 3:1 to 5:1 ratio of fat to carbohydrate + protein.
3
Modified from reference 4. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL to
older infants and children for each kcal ingested.
Product Source
Dichloroacetate Peter W. Stacpoole, PhD, MD Richard Haas, MD
Division of Endocrinology and Division of Pediatric Neurology
Metabolism University of California/San Diego
University of Florida Medical Center
College of Medicine 9500 Gilman Drive
Box 100226 La Jolla, CA 92093-0935
Gainesville, FL 32610 (619) 587-4004
(352) 392-2321 FAX (619) 587-8050
© 2001 Ross Products Division Glucose Transport Protein Defect, PDH Complex Deficiency, and Intractable Seizures 293
TABLE 15-3. Composition of RCF ® Ross Carbohydrate-Free Soy Formula Base With Iron (Concentrated)
and ProViMin ® Protein-Vitamin-Mineral Formula Component With Iron
294 Glucose Transport Protein Defect, PDH Complex Deficiency, and Intractable Seizures © 2001 Ross Products Division
TABLE 15-4. Serving Lists for Ketogenic Diets1, 2
© 2001 Ross Products Division Glucose Transport Protein Defect, PDH Complex Deficiency, and Intractable Seizures 295
TABLE 15-5. Diet Guide for Ketogenic Diet
Name:________________________________________________ Date: __________/_________/_________
Mo Day Year
Length/Height: ____________________ (cm/in) Weight: ______________________ (kg/lb)
MIDMORNING SNACK
LUNCH
RCF/ProViMin Mixture
Fat
Grains/Starch
Meat, high-fat
Milk, high-fat
Vegetables
MIDAFTERNOON SNACK
DINNER
RCF/ProViMin Mixture
Fat
Grains/Starch
Meat, high-fat
Milk, high-fat
Vegetables
EVENING SNACK
Volume
(mL)
Daily Totals
Comments
Nutritionist
296 Glucose Transport Protein Defect, PDH Complex Deficiency, and Intractable Seizures © 2001 Ross Products Division
292 Glucose Transport Protein Defects, PDH Complex Deficiency, and Intractable Seizures
Medications: Supplements:
1
Transthyretin
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72. Vinning EP, Freemen JM, Ballaban, GK, et al: A multicenter study of the efficacy of the ketogenic diet. Arch Neurol
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73. Wexler I, Hemalatha S, McConnell J, et al: Outcomes of pyruvate dehydrogenase deficiency treated with ketogenic
diets: Studies in patients with identical mutations. Neurology 1997;49:1655-1661.
74. Wick H, Schweizer K, Baumgartner R: Thiamine dependency in a patient with congenital lactic acidaemia due to
pyruvate dehydrogenase deficiency. Agents and Actions 1977;7:405-410.
75. Wilder RM: Effects of ketonuria on the course of epilepsy. Mayo Clin Bulletin 1921;2:307-314.
76. Woody RC, Brodie M, Hampton DK, Fiser RH: Corn oil ketogenic diet for children with intractable seizures. J Child
Neurol 1988;3:21-24.
77. Woody RC, Steele RW, Knapple WL, Pilkington NS: Impaired neutrophil function in children with seizures treated
with the ketogenic diet. J Pediatr 1989;115:427-430.
300 Glucose Transport Protein Defect, PDH Complex Deficiency, and Intractable Seizures © 2001 Ross Products Division
PROTOCOL 16 — Glycogen Storage Disease Types Ia and Ib
Glucose-1-P
Glucokinase
ADP ATP
Glucose-6-P* Glucose
H2O Pi
Adenine
Inosine
Triacylglycerols*
* Accumulates in untreated GSD Type I
TCA
Acetyl-CoA Site of enzyme defect
cycle
Cholesterol* Site of transport defect
B. Clinical Evaluation
1. Infants or children with any of following clinical symptoms and biochemical findings should be
evaluated for GSD type I (7, 12):
a. Hepatomegaly.
b. Growth retardation.
c. Bleeding tendency (1).
d. Severe neutropenia (type Ib) (15, 41).
e. Hypoglycemia.
f. Hyperlacticacidemia.
g. Hyperuricemia (22).
h. Hypertriacylglycerolemia.
i. Hypercholesterolemia.
C. Differential Diagnosis (7, 12)
1. Definitive diagnosis requires liver biopsy and DNA analysis to identify deficiency of glucose-6-
phosphatase or deficiency in any 1 of 3 microsomal translocase systems.
2. Cultured skin fibroblasts or blood CANNOT be used for enzyme diagnosis because glucose-6-
phosphatase is not present in these cell types.
C. Biochemistries
1. Maintain normal plasma biochemistries in ranges noted below or per laboratory used.
Analyte Normal Range
Cholesterol (plasma) < 201 mg/dL (5.20 mmol/L)
1
Lactate Arterial 3.3 - 6.8 mg/dL (0.36 - 0.75 mmol/L)
Venous 4.5 - 11.8 mg/dL (0.50 - 1.30 mmol/L)
Triacylglycerols (plasma) 300 - 700 mg/dL2 (3.4 - 7.9 mmol/L) (treatment range)
Uric acid (serum/plasma) 2.0 - 5.4 mg/dL (119 - 327 mmol/L)
1
Slightly higher lactate concentrations may be acceptable for treatment (12).
2
Patients with GSD type I usually do not attain normal plasma triacylglycerol concentrations and maintain
concentrations of 300 to 700 mg/dL (28).
C. Carbohydrate
1. Daytime feedings.
a. Sucrose/Fructose and Lactose/Galactose
1) See Table 16-2, p 306, for foods allowed and restricted in GSD Type I diet.
b. For infants and some toddlers, Polycose (Appendix 9, p A-9) or complex CH2O may be
used to fill prescription (Table 16-1, p 305). Polycose may be added to RCF or ProViMin
mixture.
c. Raw cornstarch (Table 16-5, p 308) replaces complex CH2O when pancreatic amylase
activity is present (beginning with very small amounts of raw cornstarch about mid-
infancy).
1) Infants < 12 months of age have tolerated cornstarch (38) but use of pancreatic
enzyme may be needed. Introduction of very small amounts of raw cornstarch
beginning at 6 months of age may be necessary to induce pancreatic amylase.
Warning: Introduction of excess raw cornstarch may cause diarrhea and flatulence.
d. Recommended complex CH2O supplementation, which makes up part of total CH2O
prescription (Table 16-1 p 305), varies from 1.25 to 2.5 g CH2O/kg/feed.
1) Actual requirements vary. Individualize amount of CH2O to maintain normoglycemia
and promote protein synthesis.
E. Nocturnal Feeding.
1. Several methods may be used to provide CH2O for night feedings.
a. Intermittent oral feedings of raw cornstarch mixed with water (8, 12); Polycose, or raw
cornstarch mixed with RCF or ProViMin.
b. Continuous CH2O source (eg, Polycose ® Glucose Polymers) via intragastric infusion (8,
16, 17, 21, 35).
1) Intermittent oral feeding of raw cornstarch and continuous CH2O infusion have
resulted in similar positive clinical outcomes (6, 30, 44).
F. Diet Guide
1. Provide parents, caregivers, or patient with completed Diet Guide (Table 16-6, p 309) with
each diet change.
X. Sample Prescriptions
A. Example 1
Establish and fill prescription for 1-month-old infant weighing 4 kg using Recommended Daily
Nutrient Intakes from Table 16-1, p 305, and average nutrient contents from Tables 16-3 and 16-
4, p 308.
1. Establish prescription
Energy 130 kcal/kg x 4 kg = 520 kcal/day
Fat 30% of 520 kcal = 156 kcal ÷ 9 kcal/g fat = 17.3 g/day
Protein 10% of 520 kcal = 52 kcal ÷ 4 kcal/g protein = 13.0 g/day (3.25 g/kg)
CH2O 60% of 520 kcal = 312 kcal ÷ 4 kcal/g CH2O = 78 g/day
Fluid 1.5 mL x 520 kcal = 780 mL
Age Nutrient
1
Energy Fat Protein CH2O Fluid2
(kcal/kg) (% of energy) (% of energy) (% of energy) (mL/kg)
Infants
0 to < 3 mo 120 (145-95) 25 - 35 10 - 15 60-70 150-125
3 to < 6 mo 115 (145-95) 25 - 35 10 - 15 60-70 160-130
6 to < 9 mo 110 (135-80) 25 - 35 10 - 15 60-70 145-125
9 to < 12 mo 105 (135-80) 25 - 35 10 - 15 60-70 135-120
Women
11 < 15 yr 2,200 (1500-3000) 25 - 35 10 -15 60 - 70 1,500 - 3,000
15 < 19 yr 2,100 (1200-3000) 25 - 35 10 -15 60 - 70 1,200 - 3,000
> 19 yr 2,100 (1400-2500) 25 - 35 10 -15 60 - 70 1,400 - 2,500
Men
11 < 15 yr 2,700 (2000-3700) 25 - 35 10 -15 60 - 70 2,000 - 3,700
15 < 19 yr 2,800 (2100-3900) 25 - 35 10 -15 60 - 70 2,100 - 3,900
> 19 yr 2,900 (2000-3300) 25 - 35 10 -15 60 - 70 2,000 - 3,300
1
Modified from reference 14.
2
Modified from reference 4. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL to
older infants and children for each kcal ingested.
BEVERAGES
Coffee, RCF ® Ross Carbohydrate-Free Soy Formula All milk and milk products with added fructose, fruit,
Base With Iron, ProViMin ® Protein-Vitamin-Mineral or flavors that contain honey, molasses, or sugar;
Formula Component With Iron Powder, ProMod ® beer; brandy; rum; vodka; carbonated beverages
Protein Supplement, tea, artificially sweetened containing fructose, fruit juice, or sugar; fruit juices
beverages, soy milk products made without sucrose or drinks containing fruit juice; liqueur; sherry;
or fructose, nondairy creamers (without sugar) vermouth
DESSERTS
Those made with glucose hydrolyzed corn starch, Any made with milk, milk products, fructose, fruit,
corn syrup, or Polycose ® Glucose Polymers and fruit juice, high fructose corn syrups, honey,
without milk or milk products molasses, or sugar; cakes, pies, or pastries
containing sucrose or lactose (galactose)
EGGS
All Any to which fructose, fruit, high fructose corn syrup,
honey, molasses, or sugar has been added.
FATS
Bacon; butter, margarines and salad dressings that do Mayonnaise and salad dressings with added
not contain milk/milk products; lard; non-dairy coffee fructose, fruit, high fructose corn syrup, honey,
creamers free of fructose, high fructose syrup, honey, molasses, or sugar; milk products; sour cream
molasses, and sugars; oils; shortening; whipping
cream
FRUITS/JUICES
Avocado, raw lemons (limited), rhubarb; limited All others
amounts of gooseberries, loganberries, blackberries,
cranberries, currants, pomegranates, limes
SUGARS/SWEETENERS
NutraSweet ® (Aspartame); Sweetmate ® Any containing fructose, high fructose corn syrup,
(acesulfame K), Splenda ® (sucralose) honey, molasses, sugar
VEGETABLES
All None
MISCELLANEOUS
Bakers cocoa; bitter chocolate; monosodium Carob powder; catsup; chile sauces; chocolate milk
glutamate (MSG); pure seasonings and spices; or sweets; drugs, mineral/vitamin preparations
dextrin; glucose, maltose; Polycose ® Glucose containing fructose, sorbitol, or sugar; seasonings
Polymers; Pro-Phree ® Protein-Free Energy Module containing added fructose, high fructose syrup;
with Iron, Vitamin and Mineral supplements not honey, molasses, sugar; maple syrup; jams; jellies;
containing fructose, or lactose preserves
From reference 25.
Galactose-restricted foods modified from references 18, 19, 20.
1
TABLE 16-4. Serving List of Foods
Add water to make ________________ oz/mL (fl oz) Amount of CH2O /kg/feed ________________
LUNCH
Medical Food Mixture
Starch
Other Carbohydrate
Vegetables
Meat
Fat
MIDAFTERNOON SNACK
DINNER
Medical Food Mixture
Starch
Other Carbohydrate
Vegetables
Meat
Fat
BEDTIME SNACK
NOCTURNAL FEEDS
(g CH2O/kg/feed or
mg CH2O/kg/min)
DAILY TOTALS
Comments:
Nutritionist
Medications: Supplements:
1
Triacylglycerol
REFERENCES
1. Ambruso DR, McCabe ERB, Anderson D, et al: Infectious and bleeding complications in patients with glycogenosis
type Ib. Am J Dis Child 1985;139:691-697.
2. American Dietetic Association. Exchange Lists for Meal Planning. Chicago: American Dietetic Association, 1995.
3. Arnold GL, Vladutiu CJ, Kirby RS: Protein insufficiency and impaired growth in children with PKU. J Inher Metab
Dis 2000;23 Suppl 1:29A.
4. Behrman RE, Kleigman RM, Arvin AA (eds): Nelson Textbook of Pediatrics, ed 15. Philadelphia: WB Saunders Co,
1996.
5. Bier DM, Leake RD, Hayward MW, et al: Measurement of "true" glucose production rates in infancy and childhood
with 6,6-dideuteroglucose. Diabetes 1977;26:1016-1023.
6. Chen YT: Type I glycogen storage disease: Nine years of management with cornstarch. Eur J Pediatr 1993;152
(Suppl 1): S56-S59.
7. Chen YT:: Glycogen storage diseases. In Scriver CR, et al (eds): The Metabolic and Molecular Bases of Inherited
Disease, ed 8. New York: McGraw-Hill Medical Publishing Division, 2001, pp 1521-1552
8. Chen YT, Cornblath M, Sidbury JB: Cornstarch therapy in type I glycogen storage disease. N Engl J Med
1984;310:171-175.
9. Fernandes J: The effect of disaccharides on the hyperlactacidaemia of glucose-6-phosphatase-deficient children.
Acta Paediatr Scand 1974;63:695-698.
10. Fernandes J, Alaupovic P, Wit JM: Gastric drip feeding in patients with glycogen storage disease type I: Its effects
on growth and plasma lipids and apolipoproteins. Pediatr Res 1989;25:327-331.
11. Fernandes J: Leonard JV, Moses SW, et al: Glycogen storage disease: Recommendations for treatment. Eur J
Pediatr 1988;147:226-228.
12. Fernandes J, Smit GMA: The glycogen storage diseases. In Fernandes J, et al (eds). Inborn Metabolic Diseases:
Diagnosis and Treatment, ed 3. New York: Springer, 2000, pp 314-318.
13. Fomon SJ, Ziegler EE: Water and renal solute load. In Fomon SJ (ed) Nutrition of Normal Infants. St.Louis: Mosby
Books, 1993.
14. Food and Nutrition Board, Committee on Dietary Allowances: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989.
15. Gitzelmann R, Bosshard NU: Defective neutrophil and monocyte functions in glycogen storage disease type Ib: A
literature review. Eur J Pediatr 1993;152 (Suppl 1):S33-S38.
16. Goldberg T, Slonim AE: Nutrition therapy for hepatic glycogen storage diseases. J Amer Diet Assoc 1993;93:1423-
1430.
17. Greene HL, Slonim AE, Burr IM, Moran JR: Type I glycogen storage disease: Five years of management with
nocturnal intragastric feeding. J Pediatr 1980;96:590-595.
18. Gropper SS, Olds SJ, Gross KC: The galactose content of selected fruits and vegetable baby foods: Implications
for infants on galactose-restricted diets. J Amer Diet Assoc 1992;92 (Suppl):A-30.
19. Gross KC: Changes in free galactose, myo-inositol, and other monosaccharides in normal and non-ripening
mutant tomatoes. Phytochemistry 1983;22;1137-1139.
20. Gross KC, Acosta PB: Fruits and vegetables are a source of galactose: Implications in planning the diets of
patients with galactosaemia. J Inher Metab Dis 1991;14:253-258.
21. Hayde M, Windhalm K: Effects of cornstarch treatment in very young children with type I glycogen storage
disease. Eur J Pediatr 1990;149:630-633.
22. Kelly WN, Rosenbloom FM, Seegmiller JE, Howell RR: Excessive production of uric acid in type I glycogen
storage disease. J Pediatr 1968;72:488-496.
23. Lee PJ, Patel JS, Fewtrell M, et al: Bone mineralization in Type I glycogen storage disease. Eur J Pediatr
1995;154:483-487.
24. MacLean W, Graham G: Pediatric Nutrition in Clinical Practice. Menlo Park, Calif: Addison-Wesley Publishing, Co,
1982.
25. Matthews RH, Pehrsson PR, Farhat-Sabet M: Sugar Content of Selected Foods: Individual and Total Sugars.
Home Economics Research Report No. 48. US Govt Printing Office, 1987.
26. Meites S (ed): Pediatric Clinical Chemistry: Reference Normal Values, ed 3. Washington, DC: AACC Press, 1989.
27. Moses S: Pathophysiology and dietary treatment of the glycogen storage diseases. JPEN 1990;11:155-174.
28. Parker PH, Ballew M, Greene HL: Nutrition management of glycogen storage disease. Ann Rev Nutr
1993;13:83-109.
29. Perlman M, Aker M, Slonim AE: Successful treatment of severe type I glycogen storage disease with neonatal
presentation by nocturnal intragastric feeding. J Pediatr 1979;94:772-774.
30. Slonim AE, Terry A, Lacy WW, et al: Nocturnal intragastric therapy in type I glycogen storage disease: Effect on
hormonal and amino acid metabolism. Metabolism 1979;28:707-715.
31. Smit GPA, Berger R, Potasnick R, et al: The dietary treatment of children with type I glycogen storage disease with
slow release carbohydrate. Pediatr Res 1984;18:879-881.
Glucose
Sorbitol Glucose-6-phosphate
Sorbitol dehydrogenase
Hexokinase
Sucrose Fructose Fructose-6-phosphate
Fructokinase
Fructose-1-phosphate* Fructose-1:6-diphosphate*
Fructoaldolase B Fructoaldolase B
2-phosphoglycerate
= site of enzyme malfunction
* Accumulates in untreated HFI
Pyruvate/lactate
X. Sample Prescription
A. Example 1
Establish and fill prescription for newborn weighing 3.5 kg using Recommended Daily Nutrient
Intakes from Table 17-1, p 319, and average nutrient content from Table 17-3 through 17-5,
p 321-321.
1. Establish prescription
Protein 3.0 kg x 3.5 kg = 10.5 g
Energy 140 kcal/kg x 3.5 kg = 490 kcal
Fluid 210 mL/kg x 3.5 kg = 735 mL
2. Fill prescription
Medical Food Mixture Measure Protein Energy
(g) (kcal)
1
Similac with Iron 24 Ready to Feed 530 mL 10.1 490
Age Nutrient
1
Protein Energy1 Fluid2
(g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 3.0 < 4.5 120 (145 - 95) 150 - 125
3 to < 6 mo 3.0 < 4.5 115 (145 - 95) 160 - 130
6 to < 9 mo 2.5 < 4.0 110 (135 - 80) 145 - 125
9 to < 12 mo 2.5 < 4.0 105 (135 - 80) 135 - 120
Women
11 to <15 yr 50 < 100 2,200 (1500 - 3000) 1,500 - 3,000
15 to <19 yr 50 < 100 2,100 (1200 - 3000) 1,200 - 3,000
≥ 19 yr 50 < 100 2,100 (1400 - 2500) 1,400 - 2,500
Men
11 to <15 yr 60 < 120 2,700 (2000 - 3700) 2,000 - 3,700
15 to <19 yr 65 < 130 2,800 (2100 - 3900) 2,100 - 3,900
≥ 19 yr 65 < 130 2,900 (2000 - 3300) 2,000 - 3,300
1
Modified from reference 18.
2
Under normal circumstances, offer a minimum of 1.5 mL fluid to neonates and 1.0 mL to children and adults for each
kcal ingested.
DESSERTS
None unless made with glucose, hydrolyzed corn starch, Any made with fructose, fruit, fruit juice, high fructose corn
corn syrup, or Polycose ® Glucose Polymers syrups, honey, molasses, sorbitol, or sugar
EGGS
All Any to which fructose, fruit, high fructose corn syrup,
honey, molasses, sorbitol or sugar has been added
FATS
Bacon; butter; cream; cream cheese; lard; margarines; Mayonnaise and salad dressings to which fructose, fruit,
non-dairy coffee creamers free of fructose, high fructose high fructose corn syrup, honey, molasses, sorbitol or
corn syrup, honey, molasses, sorbitol and sugar; oils; sugar have been added
shortening
FRUITS/JUICES
Avocado, rhubarb All others
SUGARS/SWEETENERS
None Any containing fructose, high fructose corn syrup, honey,
molasses, sorbitol, sugar
VEGETABLES
Asparagus; broadbeans, immature; celery; chard, Swiss; All others
cucumber; kale; lettuce; mustard greens; mushrooms;
parsnips; peas, green; potato, white, mature; spinach;
turnip greens; watercress
TABLE 17-3. Exchange Lists for Children and Adults with Hereditary Fructose Intolerance
TABLE 17-4. Amounts of Similac ® Concentrated Liquid or Powder Required to Make Formulas of 24 or
27 kcal/fl oz
Concentration Similac
Concentrated Liquid Powder
(mL) (water to make) (g) (water to make)
24 kcal/fl oz 71 mL 118 mL1 18.72 118 mL1
27 kcal/fl oz 76 mL 118 mL 21.02 118 mL
1
4 fl oz
2
1 scoop of Similac powder = 8.5 g
TABLE 17-5. Foods that Will Supply Daily Nutrient Needs of Infants with Hereditary Fructose Intolerance
Date: _________/________/________
Mo Day Year
mL
mL
Cereals/Starch/Bread
Fat
Meat
Vegetables
Total per kg
Comments:
Nutritionist
LDH
Carbohydrate Pyruvate* Lactate*
AAT
Glucose
PK PC PDH, Alanine*
Biotin Thiamin
B. Maintain Following Plasma Amino Acids and Glucose in Ranges Noted or in Normal Range for
Age Established by Laboratory Used:
Amino Acid (37) (µmol/L)
B. Fat (22)
1. Prescribe amount of total fat that promotes goals of nutrition support.
a. Supply about 35% of total daily energy as fat (11).
1) Prescribe 3% of total energy as linoleic acid and 1.0% as α-linolenic acid.
Warning: Essential fatty acid deficiency may occur if intakes of linoleic acid and
α-linolenic acid are inadequate.
C. Protein
1. Prescribe amount that supplies about 15% of total energy for infants (Table 18-1, p 332).
D. Carbohydrate
1. Prescribe remaining energy as carbohydrate.
F. Citric Acid, L-Arginine, L-ASPNH2, L-ASP , L-GLUNH2 (15, 21, 28, 29, 31, 41)
1. Supplement diet with any or all nutrients listed in F required to maintain plasma citrate
concentrations in normal range.
2. Supplement with citrate daily (up to 7.5 mmol/kg/day, part as sodium and part as potassium
salt) (1) to maintain normal plasma citrate and OAA concentrations.
3. Supplement with following amounts of L-amino acids daily, if required. Modify based on
plasma concentrations.
L-Arginine To maintain normal plasma concentration
L-Asparagine 68 mg/kg
L-Aspartic acid 18 - 360 mg/kg
L-Glutamic acid 52 mg/kg
L-Glutamine 460 mg/kg
H. Fluid
1. Prescribe amount that will supply water requirements (Table 18-1, p 332). Under normal
circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL to children and adults
for each kcal ingested.
2. Requirements may be higher than recommended secondary to accompanying fever.
I. Fasting
1. Instruct parents and/or caretakers to prevent infants from fasting > 4 hours, children > 6 hours,
and adults > 8 hours.
X. Sample Prescription
A. Example
Establish and fill prescription for newborn weighing 3.5 kg using Recommended Daily Nutrient
Intakes from Table 18-1, p 332, and average nutrient content from Tables 18-2 and 18-3, pp 332
and 333.
1. Establish prescription.
Energy 120 kcal/kg x 3.5 kg = 420 kcal
Fat 420 kcal x 0.35 = 147 kcal ÷ 9 kcal = 16.3 g
Protein 420 kcal x 0.15 = 63 kcal ÷ 4 kcal = 15.8 g
Carbohydrate 420 kcal - 210 kcal = 210 kcal ÷ 4 kcal = 52.5 g
Fluid 150 mL/kg x 3.5 kg = 525 mL
2. Fill prescription.
Food List Measure Fat Protein Energy
(g) (g) (kcal)
Similac With Iron Ready to Feed 415 mL 16.3 5.8 282
ProViMin 13.7 g 0.0 10.0 43
Soy oil 2 mL 1.8 0.0 16
Polycose Liquid 40 mL 0.0 0.0 80
Add water to make 525 mL (18 fl oz).
Age Nutrient
1
Protein Fat Energy1 Fluid2
(% of energy) (% of energy) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 12 - 15 30 - 35 120 (145 - 95) 150 - 125
3 to < 6 mo 12 - 15 30 - 35 115 (145 - 95) 160 - 130
6 to < 9 mo 12 - 15 30 - 35 110 (135 - 80) 145 - 125
9 to < 12 mo 12 - 15 30 - 35 105 (135 - 80) 135 - 120
(% of energy) (% of energy) (kcal/day) (mL/day)
Women
11 to < 15 yr 12 - 15 30 - 35 2,200 (1500 - 3000) 1,500 - 3,000
15 to < 19 yr 12 - 15 30 - 35 2,100 (1200 - 3000) 1,200 - 3,000
≥ 19 yr 12 - 15 30 - 35 2,100 (1400 - 2500) 1,400 - 2,500
Men
11 to < 15 yr 12 - 15 30 - 35 2,700 (2000 - 3700) 2,000 - 3,700
15 to < 19 yr 12 - 15 30 - 35 2,800 (2100 - 3900) 2,100 - 3,900
≥ 19 yr 12 - 15 30 - 35 2,900 (2000 - 3300) 2,000 - 3,300
1
Modified from reference 13.
2
Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL to children and adults for each
kcal ingested.
TABLE 18-2. Average Nutrient Contents of Ross Infant Formulas and Gerber ® Baby Foods1
Name:______________________________________________________________
Date: __________/_________/_________
Mo Day Year
mL
mg
mg
mg
Cereals/Starch/Bread
Cereals: With Fruit
Desserts
Fruits/Juices
Meats
Vegetables
Comments:
____________________________________________________
Nutritionist
C. Protein
1. Prescribe amount that supplies 15% to 20% of total energy for infants (Table 19-1, p 344).
D. Carbohydrate
1. Prescribe remaining energy as carbohydrate.
E. Fluid
1. Prescribe amount that will supply water requirements (Table 19-1, p 344). Under normal
circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL to children and adults
for each kcal ingested.
2. Requirements may be higher than recommended secondary to fever.
F. Fat-Soluble Vitamins (24)
1. Prescribe amounts that maintain normal plasma concentrations.
a. Plasma retinol should be maintained > 20 µg/dL.
b. Plasma 25-dihydroxyvitamin D should be maintained between 30 and 60 ng/mL.
c. Plasma α-tocopherol should be maintained > 0.6 mg/dL.
G. High-Dose Antioxidant Therapy (13)
1. Heaney, et al (13) used the following antioxidant therapy to prevent pancreatitis in three
patients with lipoprotein lipase deficiency.
Beta-carotene 9,000 IU/day
Methionine (not an antioxidant) 500 mg/day
Selenium 600 µg/day 1
Vitamin C 540 mg/day
Vitamin E 270 IU/day
Warning: THIS AMOUNT OF SELENIUM MAY CAUSE TOXIC SYMPTOMS IF GIVEN FOR A
PROLONGED TIME.
B. Fat
1. Use soy or walnut oil to provide fat required for infant (Appendix 10, p A-9).
2. Use measured amounts of soy, walnut, or canola oil; beikost; or table foods to provide fat for
children and adults.
C. Energy
1. Calculate energy supplied by ProViMin, skim milk, other protein-containing foods, and fat.
2. Subtract amount determined above from total energy prescription.
3. Provide any remaining prescribed energy with Polycose ® Glucose Polymers powder
(23 kcal/Tbsp, 3.8 kcal/g) or liquid (2 kcal/mL) (Appendix 9, p A-9), sugar (48 kcal/Tbsp),
beikost, or table foods containing little or no fat (Tables 19-2 and 19-3, pp 344 and 345).
a. Do not use honey for infants because it may contain botulinum toxin.
4. Add beikost or table foods after infant is 3 to 4 months old to provide variety in taste, color,
and texture (Table 19-2, p 344).
5. See Table 19-4, p 345, for types and amounts of foods that will supply infant's daily nutrient
needs.
E. Diet Guide
1. Provide parents, caretakers, or patient with completed Diet Guide (Table 19-5, p 346, or 19-6,
p 347) with each diet change.
B. Protein Status
1. Evaluate plasma albumin concentration every 3 months until patient is 1 year old and 6
months thereafter (Appendix 17, p A-18, for standards).
2. If plasma albumin concentration is below standard:
a. Increase prescribed amount of protein by 5% to 10% and reevaluate plasma albumin
concentration in 1 month.
b. If plasma albumin concentration remains low, repeat above process until value is in
normal range.
C. Iron Status
1. Plasma ferritin concentration.
a. Evaluate at 6, 9, and 12 months of age and every 6 months thereafter (Appendix 17,
p A-18, for standards).
b. If plasma ferritin concentration is below standard:
1) Increase iron intake to 2 mg/kg body weight with supplements (ferrous sulfate).
2) Evaluate plasma ferritin concentration monthly on increased iron intake.
3) Continue iron supplements until plasma ferritin concentration is in normal range.
X. Sample Prescriptions
A. Example 1
Establish and fill prescription for newborn weighing 3.5 kg using Recommended Daily Nutrient
Intakes from Table 19-1, p 344, and nutrient composition of ProViMin from Table 19-2, p 344, and
soy oil from Appendix 10, p A-9.
1. Establish prescription.
Energy 120 kcal/kg x 3.5 kg = 420 kcal
Fat 420 kcal x 0.13 = 55 kcal ÷ 9 kcal = 6.1 g
Protein 420 kcal x 0.12 = 50 kcal ÷ 4 kcal = 12.6 g
Fluid 150 mL/kg x 3.5 kg = 525 mL
2. Fill prescription.
Medical Food Mixture Measure Fat Protein Energy
(g) (g) (kcal)
ProViMin 17.0 g 0 12.4 53
Soy oil 7 mL 6.3 0.0 56
Polycose Liquid 156 mL 0 0.0 312
Add water to make 540 mL (18 fl oz)
Age Nutrient
1
Protein Fat Energy1 Fluid2
(% of energy) (% of energy) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 15 - 20 8 - 15 120 (145 - 95) 150 - 125
3 to < 6 mo 15 - 20 8 - 15 115 (145 - 95) 160 - 130
6 to < 9 mo 15 - 20 8 - 15 110 (135 - 80) 145 - 125
9 to < 12 mo 15 - 20 8 - 15 105 (135 - 80) 135 - 120
Women
11 to < 15 yr 46 - 53 8 - 15 2,200 (1500 - 3000) 1,500 - 3,000
15 to < 19 yr 46 - 53 8 - 15 2,100 (1200 - 3000) 1,200 - 3,000
≥ 19 yr 53 - 60 8 - 15 2,100 (1400 - 2500) 1,400 - 2,500
Men
11 to < 15 yr 45 - 52 8 - 15 2,700 (2000 - 3700) 2,000 - 3,700
15 to < 19 yr 59 - 66 8 - 15 2,800 (2100 - 3900) 2,100 - 3,900
≥ 19 yr 63 - 69 8 - 15 2,900 (2000 - 3300) 2,000 - 3,300
1
Modified from reference 10.
2
Modified from reference 1. Under normal circumstances, offer a minimum of 1.5 mL fluid to neonates and 1.0 mL to
children and adults for each kcal ingested.
TABLE 19-2. Approximate Macronutrient Contents of Gerber ® Baby Foods (Beikost) and ProViMin ®1
TABLE 19-4. Types and Amounts of Infant Foods That Will Supply the Daily Nutrient Needs of Infants With
Chylomicronemia
Date: ____________/___________/__________
Mo Day Year
Name:_____________________________________________________________________
g/Tbsp
mL
mL
mL
Cereals Tbsp
Desserts Tbsp
Fruits/Juices Tbsp/fl oz
Meats, 2nd & 3rd Foods Tbsp
Vegetables Tbsp
Comments:
______________________________________________
Nutritionist
Name:_____________________________________________________________________
Meat, lean
Milk, skim
Fat
Fruit
Starch/Bread
Vegetables
Percentage of energy
Comments:
______________________________________________
Nutritionist
1
Triacylglycerols
REFERENCES
1. Behrman RE, Kliegman RM, Arvin AA (eds): Nelson Textbook of Pediatrics, ed 15. Philadelphia: WB Saunders Co,
1996.
2. Berger GMB: An incomplete form of familial lipoprotein lipase deficiency presenting with Type I
hyperlipoproteinemia. Am J Clin Pathol 1987;88:369-373.
3. Black DM, Sprecker DL: Dietary treatment and growth of hyperchylomicronemic children severely restricted in
dietary fat. Am J Dis Child 1993;147:60-62.
4. Brechenridge WC, Alaupovic P, Cox DW, Little JA: Apolipoprotein and lipoprotein concentrations in familial
apolipoprotein C-II deficiency. Atheroscler 1982;44:233-235.
5. Brunzell JD, Deeb SS: Familial lipoprotein lipase deficiency, apoC-II deficiency and hepatic lipase deficiency. In
Scriver CR, et al (eds): The Metabolic and Molecular Bases of Inherited Disease, ed 8. New York: McGraw-Hill
Medical Publishing Division, 2001, pp 2789-2816.
6. Brunzell JD, Chait A, Nikkila EA, et al: Heterogeneity of primary lipoprotein lipase deficiency. Metabolism
1980;29:624-628.
7. Bucher H, Rampini S, James RW, et al: Marked changes of lipid levels during puberty in a patient with lipoprotein
lipase deficiency. Eur J Pediatr 1997;156:121-125.
8. Deckelbaum RJ, Dupont C, LeTarte J, Pencharz P: Primary hypertriglyceridemia in childhood. Am J Dis Child
1983;137:396-398.
9. Feoli-Fonseca JC, Levy E, Godard M, Lambert M: Familial lipoprotein lipase deficiency in infancy: Clinical,
biochemical, and molecular study. J Pediatr 1998;133:417-423.
10. Food and Nutrition Board, Committee on Dietary Allowances: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989.
11. Gasbarrini G, Mingrone G, Greco AV, Castagneto M: An 18-year old woman with familial chylomicronaemia who
would not stick to diet. Lancet 1996;348:794.
12. Havel RJ, Kane JP: Introduction: Structure and metabolism of plasma lipoproteins. In Scriver CR, et al (eds): The
Metabolic and Molecular Bases of Inherited Disease, ed 8. New York: McGraw-Hill Medical Publishing Division,
2001, pp 2705-2716.
13. Heaney AP, Sharer N, Rameh B, et al: Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency
with high-dose antioxidant therapy. J Clin Endocrinol Metab 1999;84:1203-1205.
14. Levy RI, Rifkind BM: Diagnosis and management of hyperlipoproteinemia in infants and children. Am J Cardiol
1973;31:547-556.
15. Lipshitz F, Moses N: Growth failure: A complication of dietary treatment of hypercholesterolemia. Am J Dis Child
1989;143:537-542.
16. MacLean W, Graham G: Pediatric Nutrition in Clinical Practice. Menlo Park, Calif: Addison-Wesley Publishing Co,
1982.
17. Nyhan WL, Ozand PT: Lipoprotein lipase deficiency type I hyperlipoproteinemia. In Atlas of Metabolic Diseases,
New York: Chapman and Hall Medical 1998, pp 515-522.
18. Ohno M, Ishibashi S, Nakao K, et al: A neonatal case of apolipoprotein C-II deficiency. Eur J Pediatr
1989;148:550-552.
19. Ohta T, Nakamura R, Ikeda Y, et al: Follow up study on children with dyslipidaemia detected by mass screening at
18 months of age: Effect of 12 months dietary treatment. Eur J Pediatr 1993;152:939-943.
20. Posati LP, Orr ML: Composition of Foods: Dairy and Egg Products, Agriculture Handbook No. 8-1. Washington,
DC: US Dept of Agriculture, Agricultural Research Service, 1976.
21. Rane HS, Garu R, Lahari KR, Desai AJ: Primary hyperlipoproteinemia type I. Indian J Pediatr 1984;51:243-245.
22. Santamarina-Fojo S: The familial chylomicronemia syndrome: Endocrinol Metab Clin NA 1998;27:551-567.
23. Schaefer EJ, Levy RI: Pathogenesis and management of lipoprotein disorders. N Engl J Med 1985;312:1300-1310.
24. Shankar KN, Bara HS, Shetty J, Joshi MK: Lipoprotein lipase deficiency. J Postgrad Med 1997;43:81-82.
25. Siafakas CG, Brown MR, Miller TL: Neonatal pancreatitis associated with familial lipoprotein lipase deficiency.
J Pediatr Gastroenterol Nutr 1999;29:95-98.
26. Smith CA, Nelson NM: The Physiology of the Newborn Infant, ed 4. Springfield, IL: Charles C Thomas Publisher,
1976.
27. Taskinen MR: Hypolipoproteinemia and lipoprotein lipase deficiency. In Fernandes J, et al (eds): Inborn Metabolic
Diseases: Diagnosis and Treatment. New York: Springer-Verlag, 1990, pp 381-394.
28. Wannemacher RW: Key role of various individual amino acids in host response to infection. Am J Clin Nutr
1977;30:1269-1280.
FAD
NADH 2
B Protein
1. Prescribe amount that supplies 10-12% of total energy (Table 20-1, p 359).
C. Fat (44)
1. Prescribe amount of total fat that promotes goals of nutrition support (10, 16).
a. Very-long chain and long-chain-FAO defects:
1) Prescribe ~30% of energy as fat.
2) About 50% of fat energy should be derived from MCT and remainder from fats that
supply linoleic and α-linolenic acids (20, 34).
3) Docosahexaenoic acid may be essential for the patient with long-chain-3-hydroxyacyl-
CoA dehydrogenase deficiency.
i. Harding, et al (20) suggest 65 mg/day for children < 20 kg and 130 mg/day for
children > 20 kg.
b. Medium- and short-chain-FAO defects:
1) Provide 15-25% of total daily energy as fat (7, 33).
c. Prescribe 3% of total energy as linoleic acid and 1.0% as α-linolenic acid.
Warning: EFA deficiency may occur if intakes of linoleic acid and α-linolenic acid are
inadequate. Symptoms include dermal scaliness and increased skin
permeability, reduced growth rate, renal abnormalities, increased erythrocyte
fragility, increased susceptibility to infections, and decreased rate of
development (26, 40, 50).
D. Carbohydrate
1. Prescribe remaining energy as carbohydrate.
F. L-Carnitine
1. Prescribe amount that maintains normal plasma free carnitine concentration > 30 µmol/L.
2. Amounts of 50 to 150 mg/kg have been suggested (41, 46).
3. Efficacy of carnitine supplementation in treatment of FAO defects is debated but use is almost
standard therapy.
G. Glycine
1. Supplement diet with 100 to 200 mg/kg/day (41).
H. Riboflavin
1. Supplement diet with 100 to 200 mg/day, if beneficial (12, 26).
I. Fasting
1. Instruct parents, patient, or caretakers to prevent infants from fasting > 4 hours, children
> 6 hours, and adults > 8 hours.
2. Raw cornstarch (1.75-2.5 g/kg) helps prevent hypoglycemia (8).
Warning: Increased frequency of feeding, tube feedings, and IV glucose may be
necessary if patient is febrile, has diarrhea, or is vomiting.
B. Fat
1. Very-long-chain and long-chain-FAO defects:
a. Calculate grams of fat required to provide ∼30% of energy prescription.
1) Supply about 50% of fat energy with MCT oil (Appendix 26, p A-28).
i. MCT oil contains 8.2 kcal/g, 114.8 kcal/Tbsp, and 7.6 kcal/mL.
Warning: Administer MCT oil ONLY if defect in long-chain-FAO is confirmed since
addition of MCT oil is harmful to individuals with medium- or short-chain-FAO
defects.
b. If fat sources fail to supply 3% of energy as linoleic acid and 1% as α-linolenic acid, add
adequate amount of appropriate vegetable oil to supply (Appendix 10, p A-9).
c. Amount of MCT oil will need to be decreased if sources of EFAs increase dietary fat to
> 30% of energy.
d. Order docosahexaenoic acid from Martek Biosciences Corp, Columbia, MD, USA.
2. Medium- and short-chain-FAO defects:
a. Calculate grams of fat required to provide 15% to 25% of energy prescription.
b. Determine amount of vegetable oil (Appendix 10, p A-9), beikost, or table foods
(Tables 20-2 and 20-3, pp 359 and 360) required to fill fat prescription.
c. Use fat source that supplies adequate linoleic acid and α-linolenic acid.
C. Energy
1. Add energy supplied by beikost or table foods to those required to supply fat and to those
supplied by ProViMin, skim milk, carbohydrate, or other protein-containing foods.
2. Subtract amount determined above from total energy prescription.
B. Example 2
Establish and fill prescription for newborn weighing 3.5 kg who has MCADD using Recommended
Daily Nutrient Intakes from Table 20-1, p 359, and nutrient content from Table 20-2, p 359, and
Appendix 9, p A-9.
1. Establish prescription.
Energy 120 kcal/kg x 3.5 kg = 420 kcal
Fat 420 kcal x 0.25 = 105 kcal ÷ 9 kcal = 11.7 g
Protein 420 kcal x 0.12 = 50 kcal ÷ 4 kcal = 12.5 g
Fluid 150 mL/kg x 3.5 kg = 525 mL
L-Carnitine 50 mg x 3.5 kg = 175 mg
Glycine 100 mg x 3.5 kg = 350 mg
Riboflavin 200 mg = 200 mg
Age Nutrient
1
Protein Energy1 Fluid2
(% of energy) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 10 - 12 120 (145 - 95) 150 - 125
3 to < 6 mo 10 - 12 115 (145 - 95) 160 - 130
6 to < 9 mo 10 - 12 110 (135 - 80) 145 - 125
9 to < 12 mo 10 - 12 105 (135 - 80) 135 - 120
(g/day) (kcal/day) (mL/day)
Girls and Boys
1 to < 4 yr ≥ 23 1,300 ( 900 - 1800) 900 - 1,800
4 to < 7 yr ≥ 30 1,700 (1300 - 2300) 1,300 - 2,300
7 to < 11 yr ≥ 34 2,400 (1650 - 3300) 1,650 - 3,300
Women
11 to < 15 yr ≥ 46 2,200 (1500 - 3000) 1,500 - 3,000
15 to < 19 yr ≥ 46 2,100 (1200 - 3000) 1,200 - 3,000
≥ 19 yr ≥ 50 2,100 (1400 - 2500) 1,400 - 2,500
Men
11 to < 15 yr ≥ 45 2,700 (2000 - 3700) 2,000 - 3,700
15 to < 19 yr ≥ 59 2,800 (2100 - 3900) 2,100 - 3,900
≥ 19 yr ≥ 63 2,900 (2000 - 3300) 2,000 - 3,300
1
From reference 15.
2
From reference 2. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL to children
and adults for each kcal ingested.
TABLE 20-2. Average Nutrient Contents of Gerber ® Baby Foods (Beikost), ProViMin ®, and MCT Oil1
Glycine mg
Riboflavin mg
Fruits/Juices
Meats, lean
Vegetables
Total per kg
Percentage of energy
Comments:
____________________________________________________
Nutritionist
B. Protein
1. Calculate amount of Calcilo XD (Table 21-3, p 374) and beikost or table foods containing little
or no Ca required to fill protein prescription.
a. Weigh Calcilo XD powder on scale that reads in grams because of variability of household
measuring equipment (Practical Aspects of Nutrition Support, p vii) and changes in
density during shipping.
X. Sample Prescription
A. Example
Establish and fill prescription for 4-month-old girl weighing 5.0 kg using Recommended Daily
Nutrient Intakes from Table 21-1, p 373, and nutrient contents from Tables 21-2 and 21-3, pp 373
and 374.
Age Nutrient
Protein1 Energy1 Fluid2
(g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 3.00 - 2.20 120 (145 - 95) 160 - 125
3 to < 6 mo 3.00 - 2.20 115 (145 - 95) 160 - 130
6 to < 9 mo 2.50 - 2.00 110 (135 - 80) 145 - 125
9 to < 12 mo 2.50 - 2.00 105 (135 - 80) 135 - 120
Women
11 to < 15 yr ≥ 46.0 2,200 (1500 - 3000) 1,500 - 3,000
15 to < 19 yr ≥ 46.0 2,100 (1200 - 3000) 1,200 - 3,000
≥ 19 yr ≥ 50.0 2,100 (1400 - 2500) 1,400 - 2,500
Men
11 to < 15 yr ≥ 45.0 2,700 (2000 - 3700) 2,000 - 3,700
15 to < 19 yr ≥ 59.0 2,800 (2100 - 3900) 2,100 - 3,900
≥ 19 yr ≥ 63.0 2,900 (2000 - 3300) 2,000 - 3,300
1
From reference 11.
2
From reference 3. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL to children and
adults for each kcal ingested.
TABLE 21-2. Foods That May Be Added IF Additional Dietary Calcium Is Required
Infant Formulas
Alimentum ® Protein Hydrolysate Formula With Iron, Ready to Feed 100 mL 71 1.86 68
2
2
Isomil ® Soy Formula With Iron, Ready to Feed 100 mL 71 1.66 68
2
Similac ® With Iron Infant Formula, Ready to Feed 100 mL 53 1.40 68
1
USDA Nutrient Data Laboratory website (www.nal.usda.gov/fnic/foodcomp).
2
See Appendices 4 through 7, pp A-4 to A-7, for complete nutrient composition of infant formulas.
Calcilo XD g/Tbsp/cup
Fat
Fruit
Meat oz
Starch/Bread
Vegetables
Total per kg
Comments:
______________________________________________
Nutritionist
Medications: Supplements:
Dietary protein
Body protein breakdown
Glutamate + -
NH4* + HC03
Ornithine*
Ornithine-δ-
aminotransferase
Urea Cycle
Citrulline
Urea
Arginine*
B. Diagnostic Studies
1. Diagnostic studies should be conducted in any person with the following symptoms:
a. Concentration of plasma ORN 10 to 15 times greater than normal (400 - 1,400 µmol/L)
and hyperornithinuria (21, 42, 48, 49).
b. Retinopathy of unknown etiology. The following progression of visual impairment may
occur in patients with GA (3, 40):
1) 1st decade of life: myopia and night-blindness.
2) 2nd decade of life: progressive loss of peripheral vision.
3) 3rd decade of life: cataracts
4) 4th and 5th decades of life: progressive impairment leading to total blindness.
2. See references 8, 32, 40, and 47 for methods of diagnosis.
E. Physical Manifestations
1. Arrest progression of atrophy of choroid and retina and preserve or improve visual function.
B. L-ARG
1. L-ARG is an essential amino acid in patients with GA (49) and a precursor of ORN.
2. Prescribe ARG intake that promotes goals of nutrition support (Table 22-1, p 387).
3. Requirements vary widely:
a. From patient to patient, depending on activity of OAT and responsiveness to pyridoxine
therapy.
b. In same patient, depending on:
1) Age.
2) Growth rate.
3) Adequacy of protein and energy intakes.
4) State of health.
5) Plasma ORN concentrations
i. Hyperornithinemia and ornithinuria result in increased excretion of ARG (47, 49).
4. ARG intake suggested for beginning therapy depends on whether patient is responsive to
pyridoxine. Since most GA patients are not pyridoxine-responsive (47, 49), initial ARG
prescription should be at lower limit of ranges listed in Table 22-1, p 387.
5. Changing requirements of patients are determined by frequent monitoring of plasma ARG
concentrations (Section IX, Suggestion Evaluation of Nutrition support, p 383).
a. Hypoargininemia secondary to over-restriction of ARG may result in concomitant
hyperammonemia (28) and urinary excretion of orotic acid (30, 40).
Warning: ARG deficiency results in poor wound healing (4, 50), generalized skin
lesions (11), growth retardation (53), and hyperammonemia (28).
C. Protein
1. Prescribe, initially, amount at highest end of Recommended Dietary Allowances (RDAs) for
age (Table 22-1, p 387) (12, 13, 16, 18, 44).
Warning: Inadequate protein intake will result in failure to thrive in infants; weight loss,
low plasma transthyretin concentration, osteopenia, and hair loss in children
and adults. Excess protein intake will promote ammonia production and
increase the patient's requirement for ARG (7).
D. Energy
1. Prescribe amount that will support normal weight gain in infants and children and maintain
appropriate weight for height for adults (Table 22-1, p 387).
2. Requirements will vary widely and may be greater than normal when L-amino acids supply
majority of protein equivalent (34, 35).
Warning: Inadequate energy intake will result in failure to thrive in infants, poor growth
in children, and weight loss in adults. Weight loss will result in elevated
plasma ARG concentration as a result of protein catabolism. Poor growth
results in lower than expected tolerance of ARG.
E. Fluid
1. Prescribe amount that will supply water requirements (Table 22-1, p 387). Under normal
circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid to children and
adults for each kcal ingested (5).
E. Nutrient Intake
1. Maintain records of food intake for 3 days immediately before each blood test (Appendices 24
and 25, pp A-26 and A-27).
2. Evaluate intakes of ARG, protein, and energy before each blood test.
3. Evaluate mineral and vitamin intakes after each diet change.
a. Appendix 23, p A-25, may be used to check adequacy of nutrients if computer program is
not available.
b. See Appendix 28, p A-29, for information about ordering software for diet evaluation.
F. Clinical Summary
1. A summary record of growth, laboratory, and nutrient intake data is useful for patient
management (Table 22-5, p 403).
X. Sample Prescription
A. Example 1
Establish and fill prescription for 3-month-old infant weighing 5.6 kg using Recommended Daily
Nutrient Intakes from Table 22-1, p 387, and nutrient contents from Tables 22-2 and 22-4, pp 387
and 402.
1. Establish prescription.
ARG 35 mg x 5.6 kg = 196 mg/day
Protein 2.0 g/kg x 5.6 kg = 11.2 g
Energy 135 kcal/kg x 5.6 kg = 756 kcal
Fluid 160 mL/kg x 5.6 kg = 896 mL
2. Fill prescription.
Medical Food Mixture Measure ARG Protein Energy
(mg) (g) (kcal)
Similac With Iron Ready to Feed 478 mL 196 6.7 325
Cyclinex-1 60 g 0 4.5 306
Pro-Phree 25 g 0 0.0 128
Add water to make 896 mL (30 fl oz).
B. Example 2
Establish and fill prescription for 2-year-old boy weighing 13.0 kg using Recommended Daily
Nutrient Intakes from Table 22-1, p 387, and nutrient contents from Tables 22-2 and 22-4, pp 387
and 402.
Age Nutrient
1 2
ARG Protein Energy 2, 3 Fluid 4
(mg/kg) (g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 40 - 35 2.20 - 1.25 150 - 125 160 - 130
3 to < 6 mo 35 - 33 2.00 - 1.15 140 - 120 160 - 130
6 to < 9 mo 33 - 30 1.80 - 1.05 130 - 115 145 - 125
9 to < 12 mo 30 - 25 1.60 - 0.90 120 - 110 135 - 120
Women
11 to < 15 yr 18 - 15 20 -23 1,575 - 3,150 1,575 - 3,150
15 to < 19 yr 15 - 13 20 - 23 1,260 - 3,150 1,260 - 3,150
≥ 19 yr 15 - 13 22 - 25 1,785 - 2,625 1,785 - 2,625
Men
11 to < 15 yr 18 - 15 20 - 23 2,100 - 3,885 2,100 - 3,885
15 to < 19 yr 15 - 13 21 - 24 2,200 - 4,095 2,200 - 4,095
≥ 19 yr 15 - 13 23 - 32 2,625 - 3,465 2,625 - 3,465
1
Recommended ARG intakes are estimates of requirements. ARG is an essential amino acid. Modify prescription
based on frequently obtained blood and/or plasma values and growth in infants and children and frequently
obtained plasma values and weight maintenance in adults.
2
Modified from references 9 and 10.
3
Energy intakes may be greater than normal when using L-amino acids for protein (34).
4
Modified from reference (5). Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL to
children and adults for each kcal ingested.
TABLE 22-2. Serving Lists for ARG-Restricted Diets: Average Nutrient Content per Serving
Cereals, Dry
Barley 7 1 Tbsp + 2-3/4 tsp 45 0.9 28
Mixed 10 2 Tbsp + 2 tsp 45 1.0 39
Oatmeal 5 4 tsp 45 0.7 19
Oatmeal/banana 6 4-1/2 tsp 45 0.6 23
Oatmeal/mixed fruit 7 5-3/4 tsp 45 0.8 29
Rice 7 5-3/4 tsp 45 0.6 27
Rice/apples 11 3 Tbsp 45 0.6 43
Rice/apple bits 9 7-1/4 tsp 45 0.6 36
Rice/bananas 9 7-1/4 tsp 45 0.7 36
Rice/mixed fruit 6 5 tsp 45 0.4 23
Cereals, Jarred
2nd Foods ®
Mixed/applesauce/banana 79 5-1/2 Tbsp 45 0.8 66
Oatmeal/applesauce/banana 64 4-1/2 Tbsp 45 0.8 53
Rice/applesauce 90 6-1/4 Tbsp 45 0.7 82
3rd Foods ®
Mixed/apples/banana 75 5-1/4 Tbsp 45 0.9 57
Oatmeal/apples/cinnamon 69 4-3/4 Tbsp 45 0.8 46
Vegetables
1st Foods ®
peas 7 1/2 Tbsp 25 0.2 3
potatoes 48 3-1/2 Tbsp 25 0.5 23
sweet potatoes 81 5-3/4 Tbsp 25 0.9 53
2nd Foods ®
creamed corn 36 2-1/2 Tbsp 25 0.6 22
creamed spinach 17 1-1/4 Tbsp 25 0.5 8
garden vegetables 14 1 Tbsp 25 0.3 5
peas 7 1/2 Tbsp 25 0.2 4
sweet Potatoes 83 5-3/4 Tbsp 25 0.8 52
3rd Foods ®
peas/rice 10 2 tsp 25 0.2 5
sweet potatoes 63 4-1/4 Tbsp 25 0.6 34
Tender Harvest ™
butternut squash/corn 21 ND 45 0.4 10
garden carrots/brown rice 42 ND 45 0.4 18
greenbean/potato 28 ND 25 0.6 18
spring garden vegetable 24 ND 25 0.3 8
FRUITS/JUICES
1st Foods ®
bananas 50 3-1/2 Tbsp 25 0.6 50
peaches 125 8-3/4 Tbsp 25 0.9 54
prunes 125 8-3/4 Tbsp 25 1.3 126
VEGETABLES
1st Foods ®
carrots 83 5-3/4 Tbsp 25 0.8 29
green beans 42 3 Tbsp 25 0.5 13
squash 36 2-1/2 Tbsp 25 0.3 12
2nd Foods ®
carrots 83 5-3/4 Tbsp 25 0.7 25
green beans 50 3-1/2 Tbsp 25 0.7 14
mixed vegetables 100 1-3/4 Tbsp 25 0.3 9
squash 63 4-1/4 Tbsp 25 0.5 20
3rd Foods ®
carrots 83 5-3/4 Tbsp 25 0.7 24
green beans/rice 42 3 Tbsp 25 0.5 18
squash 83 5-3/4 Tbsp 25 0.7 28
FREE FOODS A
Desserts
Fruit medley tropical fruit dessert* 50 3-1/2 Tbsp 5 0.1 32
Beverages
Graduates ™
Berry punch 500 17 oz 5 0.5 255
Fruit punch 167 5-3/4 oz 5 0.2 87
Tender Harvest
Apple/mango/kiwi 167 ND 5 0.2 100
Apple/strawberry 125 ND 5 0.2 75
1
Prepared from 1998 and 1999 data from Gerber Products Co, Fremont, MI 49413.
ND = No data.
Grains
Corn
cob, medium ear 32 1/2 ear 40 1.0 29
cooked
cream style 4 1/4 cup 45 1.1 33
whole kernel 31 3 Tbsp 42 1.0
Rice, prepared
brown 26 2 Tbsp + 1 tsp 45 0.6 30
fried 20 1 Tbsp + 1 tsp 44 0.8 30
Rice-A-Roni ® 26 1 Tbsp + 2 tsp 43 0.8 33
pilaf 20 1 Tbsp + 1 tsp 44 0.8 30
Spanish 30 2 Tbsp 41 0.5 26
white
instant 22 2 Tbsp 42 0.5 24
regular 26 2 Tbsp 46 0.5 28
Pasta, Cooked
Macaroni 22 2 Tbsp + 2 tsp 44 1.1 32
Noodles, egg 27 2 Tbsp + 2 tsp 44 1.1 33
Ramen ® noodles 20 2 Tbsp 41 1.1 45
spaghetti 21 2 Tbsp + 1 tsp 43 1.1 32
Tubers
Potatoes, sweet
baked
no skin, mashed 62 3 Tbsp 47 1.0 65
w/ skin, mashed 56 1/4 cup + 1-1/2 tsp 45 1.0 58
canned, packed in syrup 110 1/2 cup + 1 Tbsp 44 1.0 151
Potatoes, white
baked, no skin 40 1/3 cup 42 0.9 43
boiled
Miscellaneous
Chocolate sauce (Hershey's ®) 51 2-3/4 Tbsp 46 2.4 249
Chow Mein noodles 11 3 Tbsp 43 1.1 56
Jell-O ®, prepared w/ sugar 35 2 Tbsp + 1 tsp 46 0.5 21
Succotash 4 1 Tbsp 34 0.6 14
Snack Foods
Barnum's Animal Crackers ® 17 6-1/2 crackers 45 1.1 73
Cookies
chocolate chip 18 1-1/2 cookies 45 1.0 93
fig bar 28 1-3/4 bars 44 1.1 100
gingersnap 21 3 cookies 47 1.2 88
oatmeal raisin 11 3/4 cookie 42 0.7 48
Oreo ® 22 2 cookies 41 1.1 107
sandwich 22 2 cookies 43 1.1 109
Sno Balls ® 43 1 cookie 48 1.3 149
Social Tea Biscuits ® 21 4 biscuits 47 1.2 96
Sugar (butter) 20 1-1/2 cookie 47 1.2 83
Sugar Wafers ® (Nabisco) 30 5-1/2 cookies 45 1.2 147
vanilla wafer 20 5 cookies 44 1.1 92
Crackers
graham (2" x 2") 14 2 crackers 45 1.1 54
Melba toast 9 1-1/2 pieces 45 1.2 31
Ritz ® 17 5 crackers 43 1.2 83
Ritz Bits ®, cheese 11 16 crackers 44 1.1 55
Rykrisp ® 9 1-1/2 pieces 47 1.0 34
saltines 12 4 crackers 44 1.1 52
Triscuits ® 14 3 crackers 45 1.2 79
Waverly ® 16 2-1/4 crackers 44 1.2 78
Wheat Thins ® 16 9 crackers 46 1.2 78
Ding Dongs ® 36 3/4 cake 41 1.1 164
Doodads ®, original 8 2 Tbsp + 1 tsp 47 0.9 41
Doritos ®, plain 16 9 chips 43 1.2 79
Doughnut, cake 23 1/2 doughnut 43 1.1 90
Fritos ® 22 11 chips 46 1.5 120
Ho Hos ® 28 1 roll 48 1.1 119
Ice cream cone, wafer type 11 2 (cones only) 44 1.1 41
Popcorn
buttered 13 1-1/2 cups 45 1.3 6
caramel 10 1-3/4 cups 44 1.3 40
plain 10 1-3/4 cups 44 1.3 40
Potato chips (2" diameter) 14 7 chips 41 0.9 73
Pretzels 18 3 pretzles 42 1.8 70
Raisins, chocolate covered 13 10 raisins 25 0.7 55
Rice cakes 6 2/3 cake 43 0.5 23
Tortillas (6" diameter)
corn 18 3/4 piece 46 0.9 26
flour 15 1/2 piece 46 1.2 48
Twinkies ® 32 3/4 roll 40 1.0 115
FATS
Butter
stick 14 1 Tbsp 4 0.1 101
whipped 16 1 Tbsp + 2 tsp 5 0.1 113
Gravy
mushroom, canned 12 2-1/2 tsp 6 0.2 6
mushroom, dry 1 2 tsp 4 0.1 3
onion, dry 1 1 Tbsp 5 0.1 5
Margarine
imitation 27 1 Tbsp + 2-1/2 tsp 5 0.1 92
soft 19 1 Tbsp + 1 tsp 5 0.2 135
stick or brick 15 1 Tbsp + 1/4 tsp 5 0.1 110
Nondairy creamer w/ sodium caseinate
liquid 6 1-1/4 tsp 5 0.1 8
powder 2 1-1/4 tsp 5 0.1 13
Rich's ® Coffee Rich 24 1 Tbsp + 2 tsp 5 0.1 37
Polyrich ® 24 2 Tbsp + 2 tsp 5 0.1 37
Olives
black 5 1 olive 6 0.1 9
green 4 3/4 olive 5 0.1 4
Salad dressings, commercial
French 12 2-1/4 tsp 5 0.1 50
Italian 10 2 tsp 5 0.1 46
mayonnaise 7 1-1/2 tsp 5 0.1 49
Miracle Whip ® 16 1 Tbsp + 1/2 tsp 5 0.1 82
ranch 5 1 tsp 6 0.1 26
Russian 4 3/4 tsp 4 0.1 19
Thousand Island 8 1-1/2 tsp 5 0.1 29
Tartar sauce 6 1-1/4 tsp 5 0.1 31
Toppings, commercial
Cool Whip ®
extra creamy 5 1 Tbsp 4 0.1 15
regular 9 2 Tbsp + 1 tsp 5 0.1 26
Dessert toppings w/ sodium caseinate, pressurized 13 3 Tbsp 5 0.1 34
Richwhip ®
pressurized 12 1 Tbsp + 2 tsp 5 0.1 34
prewhipped 6 1 Tbsp + 1-1/2 tsp 6 0.1 18
Whipped cream, pressurized 4 1 Tbsp + 1/2 tsp 5 0.1 11
FRUITS.
Fruits are raw unless otherwise noted. Weight of raw fruits is only for parts that can be eaten. Drain canned, cooked, and frozen fruits before
measuring or weighing.
Apricots
canned, heavy syrup 129 1/2 cup 27 0.7 107
dried
cooked, mashed 47 3 Tbsp 23 0.6 40
uncooked, halves 18 5 halves 25 0.6 42
frozen, sweetened 121 1/2 cup 27 0.9 119
nectar, canned 157 5 fl oz 24 0.6 88
sliced 51 1/3 23 0.7 25
Avocadoes, all varieties, mashed 43 3 Tbsp 26 0.9 69
Bananas, sliced 56 1/4 cup 26 0.6 52
Blackberries
canned, heavy syrup 48 3 Tbsp 26 0.6 44
frozen, sweetened 50 1/3 cup 25 0.6 32
raw 72 1/2 cup 22 0.5 38
VEGETABLES
Vegetables are raw unless otherwise noted. Weight of raw vegetables is only for parts that can be eaten. Drain canned and cooked
vegetables before measuring or weighing.
Asparagus
fresh or frozen, cooked 20 1-1/3 spears 24 0.5 5
raw 17 2 Tbsp 24 0.5 4
Bamboo shoots, canned, sliced 40 1/3 cup 23 0.6 5
Beans
snap green, cooked
fresh or canned 31 1/4 cup 24 0.6 11
frozen 45 1/3 cup 25 0.6 12
mung, seed attached to sprout, cooked 16 2 Tbsp 23 0.3 3
yellow wax, canned 54 3 Tbsp + 1 tsp 25 0.6 11
Beets
greens, cooked, chopped 36 1/4 cup 26 0.9 10
red, sliced
fresh, canned, cooked 85 1/2 cup 24 0.9 26
pickled 114 1/2 cup 24` 0.9 75
Broccoli, fresh or frozen
cooked 16 1 Tbsp + 2 tsp 25 0.5 5
raw 17 3 Tbsp 24 0.5 5
Brussels sprouts, fresh or frozen, cooked 16 3/4 sprout 24 0.4 6
Cabbage, shredded
Chinese (Pak-choi)
cooked 28 2 Tbsp + 2 tsp 25 0.4 3
raw 31 1/4 cup + 3 Tbsp 26 0.5 4
red
cooked 37 1/4 cup 23 0.4 8
raw 31 1/4 cup + 3 Tbsp 24 0.4 8
white
cooked 47 1/4 cup + 1 Tbsp 25 0.4 10
raw 35 1/2 cup 24 0.4 8
Carrots, sliced
canned 91 1/2 cup + 2 Tbsp 24 0.6 21
cooked 52 1/3 cup 23 0.6 23
raw 55 1/2 cup 24 0.6 24
Cauliflower
fresh, cooked 27 3 Tbsp + 1-1/2 tsp 24 0.5 7
frozen, cooked 52 1/3 cup 23 0.6 6
raw 25 1/4 cup 24 0.5 6
Celery, diced
cooked 150 1 cup 23 0.6 22
raw 120 1 cup 24 0.8 19
Chard, Swiss, cooked 22 2 Tbsp 27 0.4 5
Chayote fruit, cooked 80 1/2 cup 21 0.5 19
Soups, Campbell's ®, Condensed. Weigh or measure before diluting and dilute with water only.
Asparagus, Cream of 37 2 Tbsp + 1 tsp 25 0.7 25
Celery, Cream of 47 3 Tbsp 22 0.6 34
Minestrone 15 1 Tbsp 25 0.5 10
Mushroom, Cream of 37 2 Tbsp + 1 tsp 25 0.6 38
Onion 6 1-1/4 tsp 26 0.2 3
Potato, Cream of 42 2 Tbsp + 2 tsp 25 0.6 25
Scotch broth 13 2-1/2 tsp 24 0.5 8
Tomato 47 3 Tbsp 23 0.8 32
Tomato Bisque 47 3 Tbsp 24 0.8 45
Tomato Rice 48 3 Tbsp 23 0.8 45
FREE FOODS A
Limit to prescribed number of servings.
Beverages
Chocolate drink powder (Quik ®) 3 1 tsp 5 0.1 11
Fruit juice
Cranberry cocktail 253 8 fl oz 5 0.1 144
Fruit drink 78 2-1/2 fl oz 5 0.1 39
Lemon 15 1/2 fl oz 4 0.1 3
Lime 31 1 fl oz 5 0.1 6
Pineapple 63 2 fl oz 5 0.2 35
Prune 64 2 fl oz 7 0.4 46
Tangerine sweetened w/ sugar 16 1 Tbsp 5 0.1 8
Lemonade 92 3 fl oz 6 0.1 37
Nectar
Papaya 173 5-1/2 fl oz 5 0.3 98
Peach 78 2-1/2 fl oz 6 0.2 43
Pear 250 8 fl oz 4 0.3 150
Desserts
Apple butter 40 2 Tbsp 5 0.2 74
Fruit bars, frozen
orange 19 1/4 bar 5 0.1 18
pineapple 24 1/3 bar 4 0.1 23
Fruit ice 18 1 Tbsp + 1-1/2 tsp 5 0.1 23
Fruit Roll-Ups ® 14 1 piece 5 0.2 55
M & M's, plain 3 3-1/2 pieces 5 0.2 14
Mocha Mix, frozen
chocolate 4 1-1/2 tsp 4 0.1 8
vanilla 5 2 tsp 5 0.1 11
Sherbet, orange 12 1 Tbsp 5 0.1 17
Sorbet
peach 44 3 Tbsp 5 0.2 45
pineapple 30 2 Tbsp 5 0.1 29
strawberry 30 2 Tbsp 5 0.1 29
Fruit/Fruit Products
Apples
canned, w/ sugar 76 1/4 cup + 2 Tbsp 5 0.1 51
dried
raw 16 3 Tbsp 5 0.1 39
cooked 64 1/4 cup 5 0.1 36
raw, small 91 1/3 apple 6 0.2 54
sauce
sweetened w/ sugar 80 1/4 cup + 1 Tbsp 5 0.1 61
unsweetened 91 1/4 cup + 2 Tbsp 5 0.2 39
Cranberry sauce w/ sugar 80 1/4 cup + 1 Tbsp 5 0.1 51
Fruit juice bar 26 1/2 bar 4 0.0 22
Fruit salad, heavy syrup 53 3 Tbsp + 1 tsp 5 0.2 39
Fun fruits ® 77 3 pieces 5 0.3 300
Guava sauce 59 1/4 cup 5 0.2 21
Mixed fruit, heavy syrup 48 3 Tbsp 5 0.2 34
Pie filling
apple 184 3/4 cup 6 0.2 203
cherry 63 1/4 cup 5 0.3 65
© 2001 Ross Products Division Gyrate Atrophy 405
Food Weight Approximate ARG Protein Energy
(g) Measure (mg) (g) (kcal)
For greatest accuracy, weigh food on scale that reads in grams. All measures are level.
peach 67 1/4 cup 5 0.2 71
strawberry 24 1 Tbsp + 1-1/2 tsp 5 0.1 29
Pears
canned, heavy syrup 160 1/2 cup + 2 Tbsp 5 0.3 118
dried
cooked, mashed 32 2 Tbsp 5 0.3 40
uncooked, halves 18 1 6 0.3 46
sliced 72 1/4 cup + 3 Tbsp 0.3 43
Plums, purple, canned, heavy syrup 86 1/3 cup 5 0.3 77
Prunes
canned, heavy syrup 37 2 Tbsp + 1-1/2 tsp 5 0.3 38
dried
cooked, mashed 26 2 Tbsp 5 0.3 28
uncooked, halves 13 1-1/2 5 0.3 30
Rhubarb, cooked, sweetened 45 3 Tbsp 5 0.2 52
Miscellaneous
Barbecue sauce 16 1 Tbsp 6 0.3 12
Chives 3 1 Tbsp 6 0.1 1
Frosting, chocolate 8 1-1/2 tsp 5 0.1 32
Goldfish ® crackers, original 2 3 crackers 5 0.1 10
Horseradish 12 2 tsp 5 0.1 1
Jalepeño peppers, sliced 17 2 Tbsp 7 0.1 4
Jams and preserves 20 1 Tbsp 5 0.1 54
Marmalade 13 2 tsp 5 0.1 33
FREE FOODS B
These foods contain little or no ARG. They may be used as desired if patient is not overweight and if they do not depress appetite for
prescribed foods.
Beverages
Apple juice 124 4 fl oz 1 0.1 58
Carbonated beverages
cola 123 4 fl oz 0 0.0 50
cream soda 124 4 fl oz 0 0.0 63
Dr Pepper ® 123 4 fl oz 0 0.0 50
ginger ale 122 4 fl oz 0 0.0 41
grape soda 124 4 fl oz 0 0.0 53
lemon-lime soda 123 4 fl oz 0 0.0 49
orange soda 124 4 fl oz 0 0.0 60
root beer 123 4 fl oz 0 0.0 50
Beer
light 30 1 fl oz 2 0.1 8
regular 30 1 fl oz 3 0.1 12
Coffee
brewed 30 1 fl oz 0 0.0 1
instant powder 5 1 Tbsp 3 0.7 13
Exceed ® Energy Drink 124 4 fl oz 0 0.0 35
Fruit drink (Hi-cup ®) 124 4 fl oz 0 0.0 58
Gatorade ® Thirst Quencher 121 4 fl oz 0 0.0 30
Kool-Aid ®, sweetened w/ sugar 123 4 fl oz 0 0.0 49
Orange drink powder (Tang ®) 8 2 tsp 1 0.0 31
Strawberry drink powder (Quik ®) 8 1 Tbsp 0 0.0 33
Tea
brewed 30 1 fl oz 0 0.0 1
instant powder
sweetened 13 1 Tbsp 0 0.1 51
unsweetened 1 1 Tbsp 0 0.0 3
Miscellaneous
Lard 13 1 Tbsp 0 0.0 115
Oil, olive or vegetable 14 1 Tbsp 0 0.0 120
Richwhip ® liquid 14 1 Tbsp 0 0.0 40
Salad dressing, oil/vinegar 16 1 Tbsp 0 0.0 70
Shortening 13 1 Tbsp 0 0.0 113
1
For nutrient composition of very-low-protein foods, see Appendix 12, p A-11.
B. Diagnostic Studies
1. Diagnostic studies should be conducted in any person with the following symptoms:
a. Poor feeding, vomiting, lethargy, hypotonia, spasticity, irritability, twitching, seizures,
apnea or coma (23, 27)
b. Developmental delay (23).
c. Plasma ammonia > 150 µmol/L in newborn period and > 80 µmol/L thereafter (23).
2. See references 6, 14, 23, 28, 33, and 34 for methods of diagnosis.
3. Other causes of inherited hyperammonemia must be ruled out, including the following:
a. Abnormalities of fatty acid metabolism (Protocol 20).
b. Defects of urea cycle enzymes (Protocol 24).
c. Lysinuric protein intolerance (Protocol 11).
d. Organic acidurias (Protocols 5, 6, 10, 13, 18, 20).
4. Causes of acquired hyperammonemia that must be ruled out include the following:
a. Deficient arginine (ARG) supply.
b. Reye's syndrome.
c. Transient hyperammonemia of newborn.
d. Valproate therapy.
Warning: Laboratory results MUST be available within 4 to 8 hours when disorder of
urea cycle enzyme is suspected as hyperammonemia is a metabolic
emergency.
E. Physical Manifestations
1. Prevent liver disease.
G. Nutrient Intake
1. Maintain records of food intake for 3 days immediately before each blood test (Appendices 24
and 25, pp A-26 and A-27).
2. Evaluate intakes of protein and energy before each blood test.
3. Evaluate mineral and vitamin intakes after each diet change.
a. Appendix 23, p A-25, may be used to check adequacy of nutrients if computer program is
not available.
b. See Appendix 28, p A-29, for information about ordering software for diet evaluation.
H. Clinical Summary
1. A summary record of growth, laboratory, and nutrient intake data is useful for patient
management (Table 23-3, p 415).
X. Sample Prescription
A. Example 1
Establish and fill prescription for male neonate weighing 3.0 kg using Recommended Daily
Nutrient Intakes from Table 23-1, p 414, and approximate nutrient contents from Table 23-2, p
414.
1. Establish prescription.
L-CIT 150 mg X 3.0 kg = 450 mg/day
Protein 2.2 g/kg x 3.0 kg = 6.6 g
Energy 150 kcal/kg x 3.0 kg = 450 kcal
Fluid 160 mL/kg x 3.0 kg = 480 mL
Vitamin B supplements, if indicated
2. Fill prescription.
Medical Food Mixture Measure L-CIT Protein Energy
(mg) (g) (kcal)
Cyclinex-1 44 g 0 3.3 224
Similac With Iron, Ready to Feed 236 Ml 0 3.3 160
L-CIT 1 4.5 mL 450 0.0 0
Polycose Liquid 33 mL 0 0.0 66
Add water to make 480 mL (16 fl oz).
B. Example 2
Establish and fill prescription for 24-month-old child weighing 13.0 kg using Recommended Daily
Nutrient Intakes from Table 23-1, p 414, and approximate nutrient contents from Table 23-2,
p 414.
1. Establish prescription.
L-ORN 1,950 mg /day
Protein 20 g
Energy 1,365 kcal
Fluid 1,495 mL
Vitamin B supplements, if indicated
C. Example 3
Establish and fill prescription for 7-year-old child weighing 25.0 kg using Recommended Daily
Nutrient Intakes from Table 23-1, p 414, and approximate nutrient contents from Table 23-2,
p 414.
1. Establish prescription.
L-ORN 3,750 mg /day
Protein 25 g
Energy 1,730 kcal
Fluid 2,125 mL
Vitamin B supplements
2. Fill prescription.
Medical Food Mixture Measure ORN Protein Energy
(mg) (g) (kcal)
Cyclinex-2 100 g 0 15.0 410
L-CIT 1 37.5 mL 3,750 0.0 0
Sugar 1/4 cup 0 0.0 192
Add water to make 710 mL (24 fl oz). Offer additional water ad libitum daily.
Age Nutrient
1-3
Protein Energy 2, Fluid 4
(g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 2.20 - 1.25 150 - 125 160 - 130
3 to < 6 mo 2.00 - 1.80 140 - 120 160 - 130
6 to < 9 mo 1.80 - 1.60 130 - 115 150 - 125
9 to < 12 mo 1.60 - 1.40 120 - 110 130 - 120
Women
11 to < 15 yr 42 - 46 1,575 - 3,150 1,575 - 3,150
15 to < 19 yr 40 - 44 1,260 - 3,150 1,260 - 3,150
≥ 19 yr 42 - 46 1,785 - 2,625 1,785 - 2,625
Men
11 to < 15 yr 50 - 55 2,100 - 3,885 2,100 - 3,885
15 to < 19 yr 55 - 60 2,200 - 4,095 2,200 - 4,095
≥ 19 yr 60 - 65 2,625 - 3,465 2,625 - 3,465
1
From references 8 and 10.
2
From reference 10.
3
Protein intake may need to be increased if sodium benzoate or sodium phenylbutyrate is prescribed.
4
From reference 5. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid to
children and adults for each kcal ingested.
TABLE 23-2. Serving Lists for Protein-Restricted Diets: Approximate Nutrient Content per Serving
I. Introduction
Disorders of the urea cycle result from inherited defects in any one of six enzymes which function in
urea production (Figure T). With the exception of ornithine transcarbamylase (OTC) deficiency, all
have an autosomal recessive mode of inheritance. OTC deficiency is inherited as an X-linked
dominant trait that is often lethal in males (3,4, 8, 9).
Ammonia is normally converted to urea in the liver through the Krebs-Henseleit cycle (Figure T) and
excreted in urine. The first three enzymes of the cycle and N-acetylglutamate synthetase (NAGS) are
mitochondrial. NAGS catalyzes conversion of acetyl-CoA plus glutamate to N-acetylglutamine, an
essential cofactor for carbamylphosphate synthesis. Carbamylphosphate synthetase (CPS) catalyzes
conversion of ammonia, ATP, and bicarbonate to carbamylphosphate. OTC utilizes
carbamylphosphate and ornithine (ORN) as cosubstrates to form citrulline (CIT). CIT is exported from
mitochondria to the cytoplasm where cytosolic reactions are linked to those three mitochondria
functions. CIT and aspartate form argininosuccinic acid, in a reaction catalyzed by argininosuccinic
acid synthetase (AS). Fumarate is cleaved from argininosuccinic acid by argininosuccinic acid lyase
(AL), yielding arginine (ARG). Urea is then formed by the action of arginase, regenerating cytosolic
ORN which is transported back into the mitochondria to react with OTC (3, 4, 8, 9).
L-citrulline L-aspartate
Urine
Ornithine Argininosuccinate
= Site of enzyme defect transcarbamylase synthetase
(N) = nitrogen
L-ornithine L-argininosuccinate
Argininosuccinate
Urea Arginase lyase
L-arginine
Urine
Therapeutic L-arginine
Fumarate
Hyperammonemia is a biochemical manifestation of all disorders of the urea cycle. Other biochemical
characteristics of each defect follow: CPS deficiency causes decreased plasma CIT concentration;
OTC deficiency results in orotic aciduria and X-linked patterns of transmission; AS deficiency is
424 Urea Cycle Disorders © 2001 Ross Products Division
associated with increased plasma CIT concentration accompanied by orotic aciduria; AL deficiency
causes increased argininosuccinate in plasma and urine; and arginase deficiency results in increased
ARG concentration in plasma and urine. Clinical features in the newborn suggestive of urea cycle
enzyme defects occur with protein ingestion or infection with body protein catabolism. In increasing
order of severity, these defects include poor feeding, vomiting, lethargy, hypotonia, stupor, bleeding
diatheses, convulsions, coma, shock, and death (19). Mental retardation occurs in survivors of these
newborn episodes (3,4, 8, 9, 52). Orthoptic liver transplantation has been successfully used for
patients with CPS and OTC deficiencies (9). Retroviral-mediated gene therapy is being studied in AS-
deficient cell cultures (12). Tamura, et al (50) found that glucagon enhanced urea excretion in AS
deficiency.
X. Sample Prescription
A. Example 1
Establish and fill prescription for male neonate weighing 3.0 kg who has OTC deficiency using
Recommended Daily Nutrient Intakes from Table 24-1, p 429, and approximate nutrient contents
from Table 24-2, p 429.
1. Establish prescription.
L-CIT 350 mg X 3.0 kg = 1,050 mg/day
Protein 2.2 g/kg x 3.0 kg = 6.6 g
Energy 150 kcal/kg x 3.0 kg = 450 kcal
Fluid 160 mL/kg x 3.0 kg = 480 mL
Vitamin B supplements, if indicated
Citrate
2. Fill prescription.
Medical Food Mixture Measure L-CIT Protein Energy
(mg) (g) (kcal)
Cyclinex-1 44 g 0 3.3 224
Similac With Iron Ready to Feed 236 mL 0 3.3 160
L-CIT 1 10.5 mL 1,050 0.0 0
Polycose Liquid 33 mL 0 0.0 66
Add water to make 480 mL (16 fl oz).
B. Example 2
Establish and fill prescription for 24-month-old child weighing 13.0 kg who AS deficiency using
Recommended Daily Nutrient Intakes from Table 24-1, p 429, and approximate nutrient contents
from Table 24-2, p 429.
C. Example 3
Establish and fill prescription for 7-year-old girl weighing 25.0 kg who has CPS deficiency using
Recommended Daily Nutrient Intakes from Table 24-1, p 429, and approximate nutrient contents
from Table 24-2, p 429.
1. Establish prescription.
L-CIT 8,750 mg /day
Protein 17 g
Energy 1,730 kcal
Fluid 2,125 mL
Vitamin B supplements, if indicated
Citrate
B. GLUNH2
1. Decreased purine and pyrimidine biosynthesis.
C. Protein
1. Kwashiorkor (51).
D. Nitrogen
1. No weight gain, decreased weight gain, or weight loss (48).
2. Impaired nitrogen retention (48).
3. Protein malnutrition (48).
Age Nutrient
1-3
Protein Energy 1 Fluid 4
(g/kg) (kcal/kg) (mL/kg)
Infants
0 to < 3 mo 2.20 - 1.25 150 - 125 160 - 130
3 to < 6 mo 2.00 - 1.80 140 - 120 160 - 130
6 to < 9 mo 1.80 - 1.60 130 - 115 150 - 125
9 to < 12 mo 1.60 - 1.40 120 - 110 130 - 120
Women
11 to < 15 yr 20 - 23 1,575 - 3,150 1,575 - 3,150
15 to < 19 yr 20 - 23 1,260 - 3,150 1,260 - 3,150
≥ 19 yr 22 - 25 1,785 - 2,625 1,785 - 2,625
Men
11 to < 15 yr 20 - 23 2,100 - 3,885 2,100 - 3,885
15 to < 19 yr 21 - 24 2,200 - 4,095 2,200 - 4,095
≥ 19 yr 23 - 32 2,625 - 3,465 2,625 - 3,465
1
From references 14, 16.
2
From reference 13, 16.
3
Protein intake may need to be increased if sodium benzoate, sodium phenylacetate, or sodium phenylbutyrate is
prescribed.
5
From reference 7. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid to
children and adults for each kcal ingested.
TABLE 24-2. Serving Lists for Protein-Restricted Diets: Approximate Nutrient Content per Serving
1
Triacylglycerols
REFERENCES
1. Ambrose AM, Powder FW, Sherwin CP: Further studies on the detoxification of phenylacetic acid. J Biol Chem
1933;101:669-675.
2. Arnold GL, Vladutiu CJ, Kirby RS: Protein insufficiency and impaired growth in children with PKU. J Inher Metab
Dis 2000;23 Suppl 1:29A.
3. Bachman C: Urea cycle disorders. In Fernandes J, et al (eds): Inborn Metabolic Diseases: Diagnosis and
Treatment. New York: Springer-Verlag, 1990, pp 211-228.
4. Batshaw ML: Inborn errors of urea synthesis. Ann Neurol 1994;35:133-141.
5. Batshaw ML, Monahan PS: Treatment of urea cycle disorders. In Tada K, et al (eds): Recent Advances in Inborn
Errors of Metabolism. New York: Karger, 1987, pp 242-250.
6. Batshaw ML, Robinsin MB, Hyland K, et al: Quinolinic acid in children with congenital hyperammonemia. Ann
Neurol 1993;34:676-681.
7. Behrman RE, Kleigman RM, Arvin AA (eds): Nelson Textbook of Pediatrics, ed 15. Philadelphia: WB Saunders Co,
1996.
8. Brusilow SW, Horwich AL: Urea cycle enzymes. In Scriver CR, et al (eds): The Metabolic and Molecular Bases of
Inherited Disease, ed 8. New York: McGraw-Hill Medical Publishing Division, 2001, pp 1909-1963.
9. Brusilow SW, Maestri NE: Urea cycle disorders: Diagnosis, pathophysiology and therapy. Adv Pediatr
1996;43:127-170.
10. Colombo JP: N-acetylglutamate deficiency: Clinical and biochemical features. Int'l Pediatr 1995;10:109-113.
11. Connelly A, Cross JH, Gadian DG, et al: Magnetic resonance spectroscopy shows increased brain glutamine in
ornithine carbamoyl transferase deficiency. Pediatr Res 1993;33:77-81.
12. Demarquoy J: Retroviral-mediated gene therapy for the treatment of citrullinemia: Transfer and expression of
argininosuccinate synthetase in human hemopoietic cells. Experientia 1993;49:345-348.
13. Elsas LJ, Acosta PB: Nutrition support of inherited metabolic diseases. In Shils ME, et al (eds): Modern Nutrition in
Health and Disease, ed 9. Baltimore: Williams & Wilkins, 1999, pp 1003-1056.
14. FAO/WHO/UNU Expert Consultation: Energy and Protein Requirements. Geneva: World Health Organization,
1985.
15. Felig DM, Brusilow SW, Boyer JL: Hyperammonemic coma due to parenteral nutrition in a woman with
heterozygous ornithine transcarbamylase deficiency. Gastroent 1995;109:282-284.
16. Food and Nutrition Board, Committee on Dietary Allowances: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989.
17. Fries MH, Kuller TA, Jurecki E, Packman S: Prenatal counseling in heterozygotes for ornithine transcarbamylase
deficiency. Clin Pediatr 1994;Sept:525-529.
18. Gatley SJ, Sherratt HAS: The synthesis of hippurate from benzoate and glycine by rat liver mitochondria.
Biochem J 1977;166:39-47.
19. Girgis N, McGravey V, Shah BL, et al: Lethal ornithine transcarbamylase deficiency in a female neonate. J Inher
Metab Dis 1987;10;274-275.
20. Goldblum OM, Brusilow SW, Maldonado YA, Farmer ER: Neonatal citrullinemia associated with cutaneous
manifestations and arginine deficiency. J Am Acad Dermatol 1986;14:321-326.
21. Gregory DM, Sovetts D, Clow CR: Plasma free amino acid values in normal children and adolescents. Metabolism
1986;35:967-969.
22. Grody WW, Chang RJ, Panagiotis NM, et al: Menstrual cycle and gonadal steroid effects on symptomatic
hyperammonaemia of urea-cycle-based and idiopathic aetiologies. J Inher Metab Dis 19994;17:566-574.
23. Guffon N, Vianey-Saban C, Bourgeois J, et al: A new neonatal case of N-acetylglutamate synthase deficiency
treated by carbamylglutamate. J Inher Metab Dis 1995;18:61-65.
24. Herrmann ME, Broesicke HG, Keller M, et al: Dependence of the utilization of a phenylalanine-free amino acid
mixture on different amounts of single dose ingested. A case report. Eur J Pediatr 1994;153:501-503.
25. Hyman SL, Coyle JT, Parke JC, et al: Anorexia and altered serotonin metabolism in a patient with argininosuccinic
aciduria. J Pediatr 1986;108:705-709.
26. Iafolla AK, Gale DS, Roe CR: Citrate therapy in argininosuccinate lyase deficiency. J Pediatr 1990;117:102-105.
27. Jackson AA, Badaloo AV, Forrester T, et al: Urinary excretion of 5-oxoproline (pyroglutamic aciduria) as an index
of glycine insufficiency in normal man. Brit J Nutr 1987;58:207-214.
28. James MO, Smith RL, Williams RT, Reidenberg M: The conjugation of phenylacetic acid in man, sub-human
primates and some non-primate species. Proc R Soc Lond 1972;182:25-35.
29. Kuchler G, Rabier D, Poggi-Travert F, et al: Therapeutic use of carbamylglutamate in the case of
carbamoylphosphate synthetase deficiency. J Inher Metab Dis 1996;19;220-222.
30. LaBrecque DR, Latham PS, Reily CA, et al: Heritable urea cycle enzyme deficiency. Liver disease in 16 patients.
J Pediatr 1979;94 (4):587-587.
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J Neurol 1995;45:593-594.
Technical Information
APPENDIX 15. Mathematical Formula for Interconversion of Plasma Amino Acids Between
µmol/L and mg/dL ..............................................................................................A-17
APPENDIX 16. Molecular Weights of Amino Acids ...........................................................................A-17
APPENDIX 17. Selected Laboratory Standards.................................................................................A-18
APPENDIX 18. Estimating Osmolarity of a Medical Food Mixture .....................................................A-20
APPENDIX 19. Approximate Osmolarity of Selected Foods ..............................................................A-21
APPENDIX 20. Potential Renal Solute Load of Medical Food Mixture ...............................................A-22
APPENDIX 21. NDC Numbers for Metabolic Medical Foods .............................................................A-23
Clinical Forms
APPENDIX 22. Diet Guide ................................................................................................................A-24
APPENDIX 23. Evaluation of Mineral/Vitamin Content of Medical Food Mixture ...............................A-25
APPENDIX 24. Diet Diary .................................................................................................................A-26
APPENDIX 25. Directions for Recording the Diet Diary .....................................................................A-27
Supplier Information
APPENDIX 26. Sources of Nutrients and Drugs ................................................................................A-28
APPENDIX 27. Low-Protein Food Suppliers......................................................................................A-29
APPENDIX 28. Products for Prescription Diet Management ..............................................................A-29
Child/Adult
Cyclinex®-2 Amino Acid Modified Medical Food 0.40
Glutarex®-2 Amino Acid Modified Medical Food 0.52
Hominex®-2 Amino Acid Modified Medical Food 0.46
I-Valex®-2 Amino Acid Modified Medical Food 0.51
-
Ketonex® 2 Amino Acid Modified Medical Food 0.54
Phenex™-2 Amino Acid Modified Medical Food, flavored 0.48
Phenex™-2 Amino Acid Modified Medical Food, unflavored 0.47
Propimex® -2 Amino Acid Modified Medical Food 0.54
Tyrex® -2 Amino Acid Modified Medical Food 0.46
1
Concentrated liquid.
1. American Academy of Pediatrics Committee on Nutrition: Pediatric Nutrition Handbook, ed 2. Elk Grove Village, IL:
American Academy of Pediatrics, 1985.
2. Posati LP, Orr ML: Composition of Foods: Dairy and Egg Products. Agriculture Handbook No. 8-1. US Dept of
Agriculture, Agricultural Research Service, 1976.
3. Penn D, Dolderer M, Schmidt-Sommerfeld E: Carnitine concentrations in the milk of different species and infant
formulas. Biol Neonat 1987;52:70.
4. Rana SK, Sanders TAB: Taurine concentrations in the diet, plasma, urine, and breast milk of vegans compared
with omnivores. Br J Nutr 1986;56:17.
5. Pennington JAT: Food Values of Portions Commonly Used, ed 15. New York: Harper & Row Publishers, 1989.
6. Scherz H, Kloos G: Food Composition and Nutrition Tables 1981/1982. Stuttgart: Wissenschaftliche,
Verlagsgesellschaft mbH, 1981.
7. Ogasa K, Kuboyama M, Kiyosawa I, et al: The content of free and bound inositol in human and cow's milk. J Nutr
Sci Vitaminol 1975;21:129.
APPENDIX 9. Nutrient Composition of Polycose ® Glucose Polymers and Pedialyte ® Oral Electrolyte
Maintenance Solution
1, 2
Nutrient Vegetable Oils
Canola 3, 4 Coconut Peanut 4 Soybean 4 Walnut 4
(per 100 mL) (per 100 mL) (per 100 mL) (per 100 mL) (per 100 mL)
Energy, kcal 825 807 796 802 802
Fat, g 93 93 90 91 91
Linoleic acid, g 19 2 29 46 48
α-Linolenic acid, g 8.7 0 0 6 9.4
1
1 Tbsp = 15 mL.
2
Reeves JB, Weihrauch JL: Composition of Foods: Fats and Oils. Agriculture Handbook No. 8-4. US Dept of
Agriculture: Agricultural Research Service, 1979.
3
Available commercially as Puritan ® Oil, canola oil.
4
Tightly close and refrigerate all oils after opening. Oils containing large amounts of α-linolenic acid oxidize rapidly
and, after oxidation, are no longer bioactive.
Food Protein Fat Energy ARG CYS HIS ILE LEU LYS MET PHE THR TRP TYR VAL
(g) (g) (kcal) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg)
Aproten ® Foods
Cracker toast 1.7 4.4 398 100 20 40 50 10 80 30 60 60 20 30 70
dp Baking mix, low protein 0.3 9.4 410 20 5 6 4 8 8 1 5 3 3 3 10
dp Chocolate chip cookies 0.8 22.9 497 30 10 10 70 10 20 2 10 20 10 3 10
Pasta, uncooked 0.5 0.9 360 30 9 10 10 50 20 10 20 10 5 10 20
Rusks 0.8 7.2 420 30 10 10 30 50 40 10 30 30 10 20 30
Wheat Starch 0.5 0.1 350 30 9 10 10 50 20 10 20 10 5 10 20
Dietary Specialties
Breads
bread machine mix 0.3 6.0 351 20 5 7 10 20 10 10 10 10 3 10 10
dinner rolls 0.5 3.5 246 30 9 10 20 40 40 10 20 20 7 10 20
rye-wheat bread 0.8 3.0 200 40 10 10 30 50 40 10 30 30 9 20 40
wheat starch bread 0.4 4.4 242 10 8 9 10 20 9 7 10 10 5 10 20
Cheese
imitation 2.2 20.0 267 80 30 50 120 220 160 50 90 120 20 80 80
sauce mix powder 6.0 26.0 482 170 110 110 190 320 460 90 150 370 90 120 260
slices 3.5 26.3 316 120 30 90 170 270 290 80 150 180 40 160 190
Chocolate bon ons 2.2 11.5 436 100 20 50 100 180 130 40 100 90 30 90 140
Chocolate sauce mix 0.2 3.0 375 10 4 3 4 6 6 2 4 4 3 2 5
Cookies
butterscotch 0.6 22.9 500 20 8 10 30 60 40 10 30 20 9 20 40
chocolate tea 0.7 19.0 482 30 10 10 20 60 20 10 30 20 7 20 30
coconut 0.8 23.0 503 60 10 20 30 90 20 10 40 20 4 20 40
ginger 0.3 11.0 412 10 6 8 10 30 6 6 10 9 1 10 10
orange 0.3 20.0 489 10 7 9 10 40 7 7 10 10 1 10 10
Fruit products
cassava chips 1.7 26.7 520 160 30 20 30 40 50 10 30 30 20 20 40
plantain chips 2.4 38.0 571 190 30 110 60 100 110 30 80 60 20 50 80
Graham cracker 0.5 20.3 473 30 9 10 10 30 20 10 20 10 5 10 20
Grains, uncooked
Porridge 0.3 1.0 360 10 6 8 9 20 8 3 10 8 2 10 10
Rice, imitation 0.3 1.0 360 10 6 8 9 20 8 3 10 8 2 10 10
A-11
(g) (g) (kcal) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg)
Tomato sauce 2.8 2.0 360 270 20 40 40 80 110 20 70 60 20 30 80
Ener-G ® Foods
Breads
mix 0.3 0.1 376 8 7 4 6 10 9 3 6 6 3 2 9
rice 0.3 8.7 325 10 5 7 5 10 10 6 10 10 3 6 10
rice starch 0.4 9.5 334 10 7 8 10 30 20 4 10 10 4 4 20
wheat starch 0.5 5.0 257 10 8 8 10 20 20 4 10 10 4 9 10
Cheese, cheddar or mozzarella 1.9 20.0 279 100 10 80 140 280 220 60 150 110 30 120 180
Cookies
lemon sandwich 0.2 21.0 486 10 4 3 4 6 6 2 4 4 3 2 5
lemon shortbread 0.2 21.5 476 10 2 2 6 10 6 3 8 5 2 7 8
orange shortbread 0.4 19.2 469 10 10 5 10 10 5 3 10 10 10 5 10
Egg replacer 0.1 0.0 375 4 1 1 1 3 3 1 2 1 1 1 3
Flour
potato starch 0.1 0.0 320 7 1 2 2 4 5 1 4 2 1 2 4
rice starch 0.8 0.0 375 40 7 8 20 40 20 10 30 10 6 20 30
tapioca 0.1 0.0 396 10 2 2 2 3 3 1 2 2 2 1 3
Gel mix
banana 0.0 0.0 372 0 0 0 0 0 0 0 0 0 0 0 0
chocolate 0.0 0.0 344 0 0 0 0 0 0 0 0 0 0 0 0
lemon 0.0 0.0 367 0 0 0 0 0 0 0 0 0 0 0 0
lime 0.0 0.0 383 0 0 0 0 0 0 0 0 0 0 0 0
orange 0.0 0.0 361 0 0 0 0 0 0 0 0 0 0 0 0
raspberry 0.0 0.0 370 0 0 0 0 0 0 0 0 0 0 0 0
strawberry 0.0 0.0 372 0 0 0 0 0 0 0 0 0 0 0 0
Ice cream cone 0.1 2.9 396 10 2 2 2 3 3 1 2 2 2 2 3
Pizza shells 1.7 13.6 320 3 7 10 10 20 20 9 10 10 4 5 20
Potato
chips 0.7 49.0 641 40 10 10 20 40 20 6 20 10 10 10 20
mix 0.1 0.0 380 7 1 2 2 4 5 1 3 2 1 2 4
Pumpkin donut 0.8 14.0 304 40 5 10 20 30 30 10 20 20 9 30 30
Waffles 0.2 7.0 248 20 1 8 10 30 10 8 20 10 1 10 20
Kingsmill ® Foods
Cake base 0.3 8.8 353 10 6 6 10 6 5 5 10 7 3 8 10
Cookies
chocolate chip 0.8 20.0 500 30 10 10 20 50 10 10 30 20 9 20 30
© 2001 Ross Products Division
Food Protein Fat Energy ARG CYS HIS ILE LEU LYS MET PHE THR TRP TYR VAL
(g) (g) (kcal) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg) (mg)
orange 0.6 20.5 500 10 10 10 10 30 10 8 20 10 6 10 10
wheat base 1.2 17.0 454 40 20 20 30 70 20 10 40 20 10 30 40
Egg replacer 0.4 1.0 350 10 9 10 10 60 8 10 20 10 2 10 20
Gel dessert, prepared 0.0 0.1 72 0 0 0 0 1 0 0 1 0 0 0 0
Unimix baking mix 0.3 4.9 222 10 6 6 10 10 6 5 10 7 4 10 10
Wheat starch 0.3 0.2 356 10 6 6 10 10 6 5 10 7 3 8 10
LOPROFIN
Baking mix 0.3 0.1 355 10 5 5 7 10 10 4 9 8 4 6 10
Biscuits
chocolate 0.5 27.0 521 3 3 3 5 10 2 3 8 5 2 4 9
sweet 0.4 22.0 496 4 3 3 5 10 2 4 7 5 2 4 9
Crackers 0.4 14.5 444 8 4 4 8 20 6 4 10 7 1 7 10
Pasta, uncooked 0.4 1.0 360 10 7 60 10 20 10 5 10 8 1 6 10
Wafers, cream 0.1 33.0 557 7 4 4 5 10 3 2 7 6 1 3 8
Wel-Plan Foods
Baking Mix 0.3 1.5 339 10 5 5 4 8 5 1 50 6 3 30 10
Pasta, uncooked 0.4 0.7 360 20 7 10 10 30 10 7 10 10 4 10 10
Miscellaneous
Almond Bark
butterscotch 0.0 28.8 529 0 0 0 0 0 0 0 0 0 0 0 0
chocolate 1.2 28.9 518 59 13 18 40 63 52 11 50 41 15 39 62
white 0.0 28.3 526 0 0 0 0 0 0 0 0 0 0 0 0
Prono gel mix 0.0 0.0 390 0 0 0 0 0 0 0 0 0 0 0 0
Schreiber Cheeses, imitation
Cheddar 1.4 15.7 275 40 20 30 70 130 100 20 50 70 10 40 80
slices 4.2 15.8 263 150 100 110 230 410 320 100 180 210 50 170 250
Whitehall Cheeses, imitation 3.7 26.3 300 140 50 90 200 360 300 90 160 180 40 150 210
A-13
APPENDIX 13. Recommended Dietary Intakes (RDIs) for Minerals and Vitamins by Infants
1
Nutrient Recommended Intake for Age
0 to <6 mo 6 to <12 mo
Minerals
Calcium, mg 400 600
Chloride, mEq 8 - 20 11 - 34
Copper, mg 0.5 - 0.7 0.7 - 1.0
Iodine, µg 40 50
2
Iron, mg 10 15
Magnesium, mg 50 75
Manganese, mg 0.5 - 0.7 0.7 - 1.0
Phosphorus, mg 300 500
Potassium, mEq 9. - 24 11. - 33
Selenium, µg 15 20
Sodium, mEq 5 - 15 11 - 33
Zinc, mg 5 5
Vitamins
A, µg RE 420 400
D, µg 5 5
E, mg α-TE 4 6
K, µg 5 10
Ascorbic acid, mg 40 50
Biotin, µg 35 50
B6, mg 0.3 0.6
B12, µg 0.5 1.5
Choline, mg 125 150
Folate, µg 65 80
Inositol, mg 4.8 4.6
3
Niacin equiv, mg 6 8
Pantothenic acid, mg 2 3
Riboflavin, mg 0.4 0.6
Thiamin, mg 0.3 0.5
1
Modified from Food and Nutrition Board: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989 and Monsen ER: Dietary reference
intakes for antioxidant nutrients: Vitamin C, vitamin E, selenium, and carotenoids. J Amer Diet Assoc
2000;100:637-640.
2
Iron needs of patients with PKU may be greater than RDAs (Gropper S, Acosta PB, Clarke-Sheehan N,
et al: Trace element status of PKU children ingesting an elemental diet. JPEN 1987;11:287).
3
Niacin needs of patients with PKU are greater than RDAs (Lewis JS, Loskill S, Bunker ML, et al:
N-Methylnicotinamide excretion of phenylketonuric children and a child with Hartnup disease before
and after phenylalanine and tryptophan load. Fed Proc 1974;33:666A).
child with Hartnup disease before and after phenylalanine and tryptophan load. Fed Proc 1974;33:666A).
Recommended Daily Intakes (RDIs)
Protein requirements are greater than Recommended Dietary Allowances (RDAs) when L-amino acids are
the primary protein source (2, 7 ). This increased need is due to rapid amino acid absorption and subsequent
oxidation (8, 10), resulting in poor linear growth (5, 16), and lower than normal nitrogen retention (15) and
body protein and nitrogen content of patients fed primarily L-amino acids (3).
Recommended mineral and vitamin intakes suggested for patients with inherited metabolic disorders are
the greatest intakes suggested for each age in the 1980, 1989, and 1998 National Academy of Sciences
RDAs and Dietary Reference Intakes (7, 12, 17). Reasons for choosing the greatest recommended intakes
include reports of inadequate linear growth (5, 16) and poor bone mineralization (11) with Food and
Agriculture Organization/World Health Organization (FAO/WHO) recommended protein intakes (6); greater
than normal energy needs when L-amino acids supply the bulk of protein equivalent (13) and depressed
plasma concentrations of ferritin (4, 14), selenium (9), and zinc (1) when RDAs were achieved with
chemically defined diets.
References
1. Acosta PB, Fernhoff PM, Warshaw HS, et al: Zinc status and growth of children undergoing treatment for
phenylketonuria. J Inher Metab Dis 1982;5:107-110.
2. Acosta PB, Yannicelli S: Protein intake affects phenylalanine requirements and growth of infants with
phenylketonuria. Acta Paediatr 1994;Suppl 407:66-67.
3. Allen JR, Baur LA, Waters DL, et al: Body protein in prepubertal children with phenylketonuria. Eur J Clin Nutr
1996;50:178-186.
4. Bodley JL, Austin VJ, Hanley WB, et al: Low iron stores in infants and children with treated phenylketonuria: A
population at risk for iron-deficiency anaemia and associated cognitive deficits. Eur J Pediatr 1993;152:140-143.
5. Dhondt JL, Largilliere C, Moreno L, Farriaux JP: Physical growth in patients with phenylketonuria. J Inher Metab
Dis 1995;18:135-137.
6. FAO/WHO/UNU Expert Consultation: Energy and Protein Requirements. Geneva: World Health Organization,
1985.
7. Food and Nutrition Board, Committee on Dietary Allowances: Recommended Dietary Allowances, eds 9 and 10.
Washington, DC: National Academy of Sciences, 1980 and 1989.
8. Gropper S, Acosta PB: Effect of simultaneous ingestion of L-amino acids and whole protein on plasma amino
acids and urea nitrogen concentrations in humans. JPEN 1991;15:48-53.
9. Gropper S, Acosta PB, Clarke-Sheehan N, et al: Trace element status of children with PKU and normal children.
J Amer Diet Assoc 1988;88:459-464.
10. Herrmann ME, Broesicke HG, Keller M, et al: Dependence of the utilization of a phenylalanine-free amino acid
mixture on different amounts of single dose ingested. A case report. Eur J Pediatr 1994;153:501-503.
11. Hillman L, Schlotzhauer C, Lee D, et al: Decreased bone mineralization in children with phenylketonuria under
treatment. Eur J Pediatr 1996;155 (Suppl 1):S148-S152.
12. Monsen ER: Dietary reference intakes for antioxidant nutrients: Vitamin C, vitamin E, selenium, and carotenoids.
J Amer Diet Assoc 2000;100:637-640.
13. Pratt EL, Snyderman SE, Cheung MW, et al: The threonine requirement of the normal infant. J Nutr
1955;56:231-251.
14. Scaglioni S, Zucotti G, Vedovello M, et al: Study of serum ferritin in 58 children with classic phenylketonuria and
persistent hyperphenylalaninemia. J Inher Metab Dis 1985;8:160.
15. Schoeffer A, Herrmann ME, Broesicke HG, Moench E: Effect of dosage and timing of amino acid mixtures on
nitrogen retention in patients with phenylketonuria. J Nutr Med 1994;4:415-418.
16. Verkerk PH, van Spronsen JF, Smit GPA, Sengers RCA: Impaired prenatal and postnatal growth in Dutch patients
with phenylketonuria. Arch Dis Child 1994;71:114-118.
17. Yates AA, Schlicker SA, Suitor CW: Dietary reference intakes: The new basis for recommendations for calcium
and related nutrients, B vitamins, and choline. J Amer Diet Assoc 1998;98;699-706.
Some laboratories report plasma amino acids in mg/dL while others use µmol/L. Converting to either set of
units may be accomplished readily using one of the following mathematical formulas:
mg/dL = MW x µmol/L
104
Where:
MW = molecular weight of amino acid
µmol/L = micromoles per liter
mg/dL = milligrams per deciliter
Ances G, Granados J, Baltazar M: Serum ferritin as an early determinant of decreased iron stores in pregnant women.
South Med J 1979;72:591.
Behrman RE, Kleigman RM, Arvin AA (eds): Nelson Textbook of Pediatrics, ed 12. Philadelphia: WB Saunders Co,
1996.
Deinard AS, Schwartz S, Yip R: Developmental changes in serum ferritin and erythrocyte protoporphyrin in normal
(nonanemic) children. Am J Clin Nutr 1983;38:71.
Fredrickson DS, Goldstein JL, Brown MS: The familial hyperlipoproteinemias. In Stanbury JB, et al (eds): The
Metabolic Basis of Inherited Disease, ed 4. New York: McGraw-Hill Book Co, 1978.
Herbert VD: Folic acid. In Shils ME, et al (eds): Modern Nutrition in Health and Disease, ed 9. Baltimore: Williams &
Wilkins, 1999.
Ingenbleek Y, VanDenSchrieck VD, DeNayer P, DeVisscher M: Albumin, transferrin, and thyroxine binding
prealbumin/retinol binding protein complex in assessment of malnutrition. Clin Chim Acta 1975;63:61.
Lockitch G (ed): Handbook of Diagnosistic Biochemistry and Hematology in Normal Pregnancy. Boca Raton:
CRC Press, 1993.
Ongushina SO, Hussein MA: Plasma thyroxine binding prealbumin as an index of mild protein-energy malnutrition in
Nigerian children. Am J Clin Nutr 1980;33:794.
Soldin SJ, Brugnara C, Hicks JM: Pediatric Reference Ranges, ed 3. Washington, DC: AACC Press, 1999.
Example
Formula 39 g Phenex™-1
305 mL Similac ® With Iron RTF
16 mL Polycose Liquid
Add water to make 540 mL
Total of A + B + C = 201.99
Osmolarity = 201.99
0.54
1
Food Approximate Kcal/fl oz
Osmolality
(mosm/g) 20 24 27 30
(mosm/kg H O)
2
Infant/Toddler
Alimentum, Ready to Feed 0.339/mL -- -- -- --
Calcilo XD 2.02 -- -- -- --
Cyclinex-1 2.21 275 352 408 452
Glutarex-1 2.84 389 476 541 616
Hominex-1 2.75 373 463 527 601
I-Valex-1 2.80 378 470 543 608
Ketonex-1 2.70 366 451 517 588
Phenex-1 2.70 371 453 516 587
Pro-Phree 1.54 205 247 275 305
Propimex-1 2.76 371 470 525 606
ProViMin 2.74 -- -- -- --
RCF, Concentrated Liquid 0.08/mL -- -- -- --
Similac With Iron, Ready to Feed 0.274/mL -- -- -- --
Similac With Iron, Concentrated 0.75/mL -- -- -- --
Liquid
Similac With Iron, Powder 2.84 -- -- -- --
Isomil, Ready to Feed 0.218/mL -- -- -- --
Isomil, Concentrated Liquid 0.60/mL -- -- -- --
Isomil, Powder 2.46 -- -- -- --
Tyrex-1 2.74 380 461 521 593
Child/Adult
Cyclinex-2 4.24 615 784 895 1013
Glutarex-2 5.28 830 1032 1201 1360
Hominex-2 5.18 813 1018 1162 1354
I-Valex-2 5.36 847 1038 1216 1395
Ketonex-2 5.10 805 999 1153 1315
Phenex-2, flavored 4.78 775 938 1070 1216
Phenex-2, unflavored 4.98 782 965 1134 1293
Propimex-2 5.23 834 1018 1172 1354
Tyrex-2 5.13 809 1001 1157 1332
Whole Cow's Milk 0.30/mL -- -- -- --
Polycose Liquid 0.82/mL -- -- -- --
Polycose Powder 1.60 -- -- -- --
Sugar 2.90 -- -- -- --
1
Mixed only with water.
Because of the limited ability of infants to concentrate urine, fluid may not be retained when an infant is fed
a formula with a high renal solute load; has a restricted water intake; or is suffering from a disease
accompanied by an excessively high temperature. Any of these conditions may result in hypertonic
dehydration if the renal solute load of the infant's formula is not changed.
Approximate the renal solute load of a medical food mixture from its protein, sodium, potassium,
phosphorus and chloride content. Nitrogen (as urea), sodium, chloride, potassium, and phosphorus not
retained for growth or maintenance contribute most of the renal solute load that is excreted with water via
the kidneys. Each gram of protein yields 5.7 mosm. Sodium, potassium, and chloride each yield 1
mosm/mEq. Each milligram of phosphorus yields 0.0323 mosm (mg P ÷ 31). The milliosmoles in the
medical food mixture are estimated as follows:
mosm Potential Renal Solute Load (PRSL) = (mg dietary protein ÷ 175) + mosm (Na + K + Cl + P)
Consider the effect of both insensible and fecal water losses when calculating the effect of renal solute
load on urine concentration. Fever and/or diarrhea may considerably increase these water losses.
Approximate water losses by infants are 10 mL/kg/day in feces and 60 mL/kg/day of insensible loss.
Estimate the urinary concentration by dividing the PRSL contributed to the diet by the water available
for urine formation using the following formula:
Reference
Fomon SJ, Ziegler EE: Water and renal solute load. In Fomon SJ (ed): Nutrition of Normal Infants. St.
Louis: Mosby, 1993.
Date: _________/_________/__________
Mo Day Year
Name:_______________________________________________________
Medical Food Mixture Amount _____ _____ _____ _____ Protein Energy
(mg) (mg) (mg) (mg) (g) (kcal)
_____________________ _______ g ______ ______ ______ ______ _______ _______
_____________________ _______ g ______ ______ ______ ______ _______ _______
_____________________ _______ g/Tbsp ______ ______ ______ ______ _______ _______
_____________________ _______ g/Tbsp ______ ______ ______ ______ _______ _______
_____________________ _______ mL ______ ______ ______ ______ _______ _______
_____________________ _______ mL ______ ______ ______ ______ _______ _______
(_____________ mg/mL)
Add water to make _______________________ mL (__________________ fl oz).
Comments:
__________________________________________
Nutritionist
Vitamins
A, µg RE
D, µg
E, mg α-TE
K, µg
Biotin, µg
B6, mg
B12, µg
Ascorbic acid (C), mg
Choline, mg
Folacin, µg
Inositol, mg
Niacin, mg NE
Pantothenic acid, mg
Riboflavin, mg
Thiamin, mg
Carnitine, mg
Taurine, mg
Name:________________________________________________________________________________
Please record below the food eaten for 3 consecutive days before obtaining a blood specimen.
Medical Food Amount Mineral and/or Vitamin Supplements
g Kind:
g Amount:
mL
mL
Tbsp
Totals
Remarks:
Patient's appetite today was: ¨ Better Than Usual ¨ Usual ¨ Poor
Patient was ill today: ¨ Yes ¨ No If yes, describe:_______________________________
If ill, was medication required? ¨ Yes ¨ No If ill, what was thermometer reading?________________
If yes, name and amount of medication
prescribed:________________________________________________________
Did patient regurgitate food or formula? ¨ Yes ¨ No
Does patient have diarrhea? ¨ Yes ¨ No
1
Record in 24-hour clock (1:00 PM = 13:00)
For greatest accuracy, weigh food on a scale that reads in grams. All measures are level.
1. Use US Bureau of Standards approved measuring cups and spoons for all servings. All measurements
should be level.
4. At the time it is eaten, record the exact amount of all medical food mixture and beikost or table foods for
3 days before obtaining a blood specimen.
6. Contact your nutritionist before using any food not included on the food list provided.
This software contains data for approximately 2,000 foods, including Ross medical foods for inherited
metabolic disorders and low-protein foods. Data were derived from the US Department of Agriculture and
other sources. Nutrient intakes are compared to RDIs for age where available. The software can be used to
calculate the following nutrients: protein; fat; carbohydrate; cholesterol; energy; the amino acids arginine,
cystine, histidine, isoleucine, leucine, lysine, methionine, phenylalanine, threonine, tryptophan, tyrosine, and
valine; the minerals calcium, copper, iron, magnesium, phosphorus, potassium, and zinc; and the vitamins
A, B6, B12, C, folacin, niacin, pantothenic acid, riboflavin, and thiamin.
Metanova™ Metabolic Diet Planner is software that helps plan diets and evaluate nutrients in the medical
food mixture for patients with PKU. Order from:
Metabolic Diseases
Ross Products Division, RP3-2
Abbott Laboratories
Columbus, OH 43215
(614) 624-7648; (614) 624-7516
(800) 986-8755
A
Abdominal pain, 338 Arginine, xi, xvi, 209-211, 213-215, 326, 327, 379-387,
Abetalipoproteinemia, xv 406, 418-422, 427
Abnormal electroencephalograms, 2 Arginine deficiency, 419, 420
Abnormal metabolites, 233, 351, 352 Argininemia, xvi
Acetoacetic acid, 103, 111, 326, 350 Argininosuccinate, 419
Acetoacetyl-CoA thiolase, 124, 125 Argininosuccinic acid, 418
Acetoacetyl-CoA, 123 Argininosuccinic acid lyase, xvi, 418, 419
Acetyl-CoA, 103, 123, 279, 325, 350, 418 Argininosuccinic acid lyase deficiency, 419-421
N-Acetylglutamate synthetase, 418-420 Argininosuccinic acid synthase, xvi, 210, 418, 419
N-Acetylglutamate synthetase deficiency, xvi, 421 Argininosuccinic acid synthase deficiency, 418, 420,
N-Acetylglutamine, 418 421, 426
N-Acetyllysine, 210 Argininosuccinic aciduria, xvi, 419
N-Acetyltyrosine, 63, 65, 68 Arrhythmia, 351
Acylcarnitine, xv, 166, 356 Arteriosclerosis, 296
Acyl-CoA dehydrogenase, 350 Ascites, 313, 314
Acylglycine, 351 Asparagine, xv, 325, 327
Adenosylcobalamin, xi, 230 Aspartic acid, xv, 325-327, 418, 420
S-Adenosylmethionine, 137 Ataxia, 63, 64, 123, 166, 281, 406
Adenosyltransferase, xiii Atherosclerosis, 296, 338
Adipic acid, 197 Attention deficit disorder, 351
Alanine, xiv, 77, 80, 210, 279-282, 325, 326, 406, 407
Alanine aminotransferase, 325 B
Albumin, 8, 38, 55, 68, 78, 81, 111, 126, 129, 144, Benzoic acid, 114, 421
172, 173, 201, 214, 224, 234, 237, 266, 285, ß-1-4-linkages, 263
302, 316, 329, 341, 350, 356, 370, 384, 411, 425 ß-Adrenergic blocking agents, 343
Albuminuria, 262 ß-Galactosidase, 264
Aldolase B, xiv, 313, 314 ß-Hydroxybutyric acid, 111, 326, 350
Alimentum, xiii, 12, 58, 70, 87, 117, 133, 148, 178, ß-Ketoacyl-CoA, 123
216, 226, 243, 332, 373, 387, 414, 429, A-4 ß-Ketothiolase, 123
Alkaline phosphatase, 370 ß-Ketothiolase deficiency, xii, 123, 134
Alloisoleucine, 75, 77, 80, 104 Betaine, xiii, 137-139, 141, 142, 145, 146
Alopecia, 104, 107 Betaine-homocysteine methyltransferase, 137
α-1, 4-Glucan α-1, 4-glucan 6-glucosyltransferase, xiv Biopterin, 2
α-Galactosidase, 264 Biopterin synthetic defects, xi
Biotin, xi, xiv, 230, 231, 234, 325, 327
α-Ketobutyrate, 138
Biotinidase deficiency, xi, 325
α-Ketoisocaproic acid, x
Bleeding diatheses, 419
α-Ketoisovaleric acid, x Bleeding tendency, 140, 313, 314
α-Keto-β-methylvaleric acid, x Brain swelling, 419
α-Methylacetoacetic acid, 124 Branched-chain amino acids, xii, 74-82, 85, 87, 88, 91,
α-Methylacetoacetyl-CoA, 123 125, 128, 130, 172
α-Methyl-ß-hyroxybutyric acid, 124 Branched-chain-α-ketoacid dehydrogenase complex,
Alveolar proteinosis, 209 xi, xii, 74-77, 103
Amino Acid Analyzer, ix Branched-chain-α-ketoacid dehydrogenase complex
Aminoaciduria, 4 deficiency, 103
2-Aminoadipic acid, 166, 168 Branched-chain-α-ketoacids, x, 75, 77, 78
Amylo-1, 6-glucosidase, xiv Butanone, 124
Anemia, 4, 75, 78, 231, 238, 314, 371
Anorexia, 52, 65, 104, 169, 231, 238, 280, 326, 366, C
407, 420 Calcilo XD, xvi, 366, 368-370, 372, 374, A-3
Antiepileptic medication, 283 Calcitriol, 367, 368
Apnea, x, 74, 75, 220, 231, 281, 406, 419 Calcium, xvi, 263, 265, 367, 368, 370, 372, 373
Apo B, xv Calcium propionate, 234
Apo E2, xvi N-Carbamylglutamate, xvi, 420-422
Apolipoprotein C-II, xv, 338 Carbamylphosphate, 418
Apolipoprotein C-II deficiency, 338 Carbamylphosphate synthetase, 406, 418-420
Arabinogalactans, 263 Carbamylphosphate synthetase deficiency, xvi, 421,
Areflexia, 231 427
Arginase, xvi, 418, 419 Carbidopa, 1
Arginase deficiency, 419, 420
I-1 © 2001 Ross Products Division
Cardiac arrest, 103 Developmental delay, 107, 167, 231, 279, 351, 366,
Cardiac defect, 33 406, 419
Cardiomyopathy, 123, 197, 231, 351 Dextromethorphan, 220, 221
Carnitine, xi, xii, xiii, xiv, xv, xvi, 104-109, 111-114, Diarrhea, 49, 50, 78, 103, 200, 262, 263, 298, 299,
123, 124, 126, 127, 129, 168-175, 196-199, 201, 313, 314, 328, 331, 350, 353, 354
202, 221, 222, 224, 232, 234, 235, 238-240, 281- Diazepam, 220, 221
283, 285, 286, 351-354, 356-358, 407, 420 Dicarboxylic aciduria, 351, 355
Carnitine-acylcarnitine translocase deficiency, xv Dichloroacetate, 280-283
Carnitine palmitoyl transferase type I, 350 Diet Diary, 26, 27
Carnitine palmitoyl transferase type II, 350 Diet Guide, 6, 37, 44, 53, 66, 80, 109, 128, 143, 171,
Cataracts, 262, 263, 264, 379, 380 200, 205, 212, 222, 235, 265, 284, 291, 301,
Central nervous system hemorrhage, 103 309, 316, 322, 328, 334, 340, 346, 347, 354,
Cerebral atrophy, 280 361, 369, 375, 383, 409, 423, A-24
Cerebral palsy, 351 Dietary Reference Intakes, vii
Cholesterol, xv, xvi, 78, 125, 140, 169, 233, 234, 297, Dihydropteridine reductase, xii, 2
302 Dinitrophenylhydrazine, 81
Cholesterol granulomas, 209, 210 Dislocated lenses, 138
Choline, 138, 220 Diuretics, 343
Chordee, 197 Dizziness, 286, 314
Choreoathetosis, 166, 167, 169, 406 Dodecanedioic acid, 197
Chylomicronemia, 338, 339, 343-345 DOPA, 1
Cirrhosis, xiv, 49, 207, 314 Dysarthria, 174
Citric acid, xv, 282, 325-328, 336, 421, 422, 426, 427 Dysmorphia, 33, 197, 281
Citrulline, xiii, xvi, 209-213, 215, 326, 387, 407, 408, Dysphagia, 174
411-413, 418, 420-422, 426-428 Dysplasia, 196
Citrullinemia, xvi, 325, 419 Dyspnea, 105
Coagulation factors, 314, 315, 406 Dystonia, 140, 231
Coagulopathy, 314
Cobalamin, 230 E
Cobalamin reductase, xiii Eczema, 2, 3
Cognitive delay, 281 Edema, 313, 314
Cognitive impairment, 279 Electron transfer flavoprotein, 196, 197
Coma, x, 104, 105, 123, 167, 221, 231, 314, 326, 350, Electron transfer flavoprotein deficiency, 196
351, 406, 419 Electron transfer flavoprotein ubiquinone
Congenital anomalies, 33 oxidoreductase, 197
Constipation, 40, 174, 280, 281, 282 Electron transfer flavoprotein ubiquinone
Convulsions, 105, 167, 314, 419 oxidoreductase deficiency, 196
Corneal de-epithelialization, 233 Encephalopathy, 105, 167
Cornstarch, xiv, 202, 298-304, 327, 328, 331, 353, 358 Enoyl-CoA hydratase, 350
Cortical atrophy, 221 Epimerase, xiv
Creatine, 137, 379, 406 Epimerase deficiency, xiv
Cyanocobalamin, 408, 409, 421-423 Epinephrine, 137
Cyanosis, 105 Eruptive xanthomas, 338
Cyclinex, xvi, 379, 382-386, 402, 406-410, 412, 413, Essential fatty acid deficiency, 352, 355
418, 422-424, 426-428, A-3 Essential fatty acids, xv, 198, 299, 327, 339, 352, 353,
Cystathionase, 138 355, 358
Cystathionine ß-synthase, xi, xiii, 138-140 Estrogen, 343
Cystathionine ß-synthase deficiency, 138, 139 Ethylmalonic acid, 197
Cystathioninuria, 138 Ethylmalonic-adipic aciduria, 197
Cysteine, 138 Extrahepatic lipoprotein lipase, xv
2-L-Cysteinyl 5-1,4-dihydroxycyclohexenyl-5, 1-acetic Eye lenses, 262
acid, 63
Cystine, xi, xiii, 139-142, 144-147, 420 F
Failure to thrive, 3-5, 50, 52, 63, 65, 75, 78, 123, 126,
D 140, 141, 169, 174, 209-211, 222, 230, 231, 233,
Dehydration, 7, 54, 67, 80, 104, 105, 110, 128, 143, 234, 262, 263, 281, 282, 313, 314, 351, 381,
172, 174, 200, 213, 223, 230, 231, 236, 266, 408, 421
280, 282, 285, 301, 329, 341, 355, 370, 383, Fanconi syndrome, 49, 50
410, 424, A-22 Fasting chylomicronemia, 338, 345-348
Delayed neurologic development, 326 Fatty acid metabolism, 406
δ-Aminolevulinic acid, x, xi, 49, 51 Fatty acid oxidation, 123
δ-Aminolevulinic acid dehydratase, x, 49, 51 Fatty acid oxidation defects, 351, 353, 358
Fatty acids, 202, 330, 342, 350, 355, 356, 358
© 2001 Ross Products Division I-2
Febrile illness, 11, 57, 69, 75, 84, 114, 132, 147, 169, Glutamic acid, xv, 327
175, 202, 215, 225, 240, 267, 330, 343, 358, Glutamine, xv, 325-327, 379, 384, 406-408, 410-412,
413, 428 422, 424, 425, 428
Ferritin, vii, 8, 38, 55, 68, 81, 111, 129, 130, 144, 173, Glutarex, xiii, 166, 168, 170-173, 175, 177, A-2, A-3
201, 210, 212, 214, 224, 238, 266, 267, 286, Glutaric acid, 166-169, 173, 197
302, 316, 329, 341, 356, 370, 371, 384, 411, 425 Glutaric aciduria type I, xiii, 166, 167, 169, 170, 174-
Ferrous sulfate, 8, 38, 55, 68, 81 111, 129, 144, 173, 176, 192
201, 224, 238, 266, 286, 302, 316, 329, 341, Glutaric aciduria type II, xiii, 196, 197, 202, 204-206
356, 371, 384, 411, 425 Glutarylcarnitine, 167
Fetal damage, 33 Glutaryl-CoA dehydrogenase, xiii, 166, 167
Fibrosis, 314 Glutaryl-CoA dehydrogenase complex, 166
Fishy odor, 169, 234 Glutathione synthesis, 428
Fissures at corners of mouth, 78, 125, 233 Glycine, xi, xii, xiii, 104-109, 112, 113, 173, 197-199,
Folate, xiii, 8, 35, 37, 38, 75, 138, 139, 141, 142, 144- 210, 220, 221, 223, 232, 233, 236, 351, 353,
146, 220, 223, 316, 317, 408, 409, 421-423 354, 357, 358, 420, 421, 425
Fractionated coconut oil, xv, 351 Glycine deficiency, 428
Fructoaldolase, 314 Glycine-N-transacylase, xi
Fructoaldolase B deficiency, 313 Glycogen storage disease type I, 296-298, 301-303,
Fructose, xiv, 298, 299, 306, 313-320 305, 309, 310
Fructose intolerance, 314 Glycogen storage disease type Ia, xiv, 296
Fructose-1-phosphate, 313 Glycogen storage disease type Ib, xiv, 296, 297, 303
Fructose-1-phosphate aldolase, 313 Glycogen storage disease type Ic, 296, 297
Fumarate, 418 Glycogen storage disease type Id, 296, 297
Fumarylacetoacetate, 49 Glycogen storage disease type III, xiv
Fumarylacetoacetate hydrolyase, xii, 49-51, 64 Glycogen storage disease type IV, xiv
Glycogen storage disease type V, xiv
G Glycogenolysis, 313
Galactans, 263 Glycoproteins, 279
Galactitol, 262, 264, 266 Gout, 296
Galactokinase, 262-264, 266 Growth failure, 198, 223, 327, 339, 352
Galactokinase deficiency, xiv, 262, 263, 266 Gyrate atrophy of the choroid and retina, xvi, 379-381,
Galactolipids, 263 403
Galactonate, 262
Galactoproteins, 263 H
Galactose, xiv, 262-268, 270, 273, 298, 299, 306 H4 biopterin, 2
Galactose-1-phosphate, 262-264, 266 H4 biopterin deficiency, 1
Galactose-1-phosphate uridyltransferase, 262, 263 Hair loss, 4, 52, 65, 78, 107, 126, 141, 169, 211, 222,
Galactose-1-phosphate uridyltransferase deficiency, 233, 282, 381, 408, 421
xiv, 262-264, 266 Hawkinsinuria, 50, 63
Galactose toxicity, 262, 263 Hematemesis, 123, 124
Galactosemia, 262, 263, 265, 268-270, 274, 275 Hematologic abnormalities, 104, 209
γ−Aminobutyric acid, 166 Hematophagocytic lymphohistiocytosis, 209
Gastrostomy tube feeding, 174, 237, 238 Hepatic adenomas, 296
Glossitis, 234 Hepatic glycogen metabolism, 296
Glucagon, 313, 419 Hepatic lipoprotein lipase, xvi
Gluconeogenesis, 313, 325 Hepatoma, 50, 51, 56
Glucose, viii, xi, 76, 77, 105, 106, 123-125, 168, 198, Hepatomegaly, 105, 167, 197, 209, 263, 296, 297,
200, 202, 231, 232, 268, 279, 281, 286, 296, 313, 314, 326, 338, 351
297, 298, 299, 301-304, 314, 315, 326, 331, 352, Hepatosplenomegaly, 50, 210, 338
353, 358 Hereditary fructose intolerance, xiv, 313, 314, 317,
Glucose-6-phosphatase deficiency, 297 321-323
Glucose-6-phosphatase, xiv, 296, 297 Herpetiform dendritic ulcers, 64
Glucose-6-phosphate, 297 Hippuric acid, 421
Glucose-6-phosphate translocase, 296, 297 Hominex, xiii, 137, 140, 142-147, 162, A-2, A-3
Glucose-6-phosphate transport, xiv Homoargininuria, 210
Glucose-6-phosphate-6-phosphate, 298 Homocitrulline, 406
Glucose transport protein, 279, 281 Homocitrullinuria, 210
Glucose transport protein deficiency, xiv, 279, 281, Homocysteine, 137-139, 141, 144
283, 284 Homocystine, 137, 139-141, 144
Glucosuria, 314 Homocystinemia, 138
GLUT7 transport protein, 297 Homocystinuria, xi, xiii, 137-139, 147, 148, 163
Glutaconic acid, 166, 168 3-Hydroxy-3-methylglutaric acid, 111
Glutamate, 220, 379, 406, 418
I-3 © 2001 Ross Products Division
3-Hydroxy-3-methylglutaric aciduria, xiii, 105, 106, Hypotonia, 52, 65, 75, 103, 105, 166, 167, 197, 209,
111, 113 210, 220, 230, 279, 281, 326, 406, 419
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, 103,
105-109, 112 I
3-Hydroxyacyl-CoA dehydrogenase, 350 Idiopathic hypercalcemia, xvi, 366, 367
3-Hydroxyacyl-CoA dehydrogenase deficiency, 351 Imipramine, 220, 221
2-Hydroxyadipic acid, 166, 168 Infection, viii, 11, 57, 62, 69, 78, 84, 104, 108, 114,
3-Hydroxy-CoA dehydrogenase, 350 115, 123, 126, 147, 175, 196, 202, 211, 213,
Hydroxycobalamin, xiii, 230, 231 215, 222, 230, 231, 240, 268, 303, 317, 330,
2-Hydroxyglutaric acid, 197 343, 350, 352, 358, 408, 410, 411, 413, 419,
3-Hydroxyglutaric acid, 166, 168 421, 424
5-Hydroxyhexanoic acid, 197 Infertility, 263
3-Hydroxyisobutyric acid dehydrogenase, xii Inflammatory bowel disease, 296
3-Hydroxyisobutyric aciduria, xii Interstitial lung disease, 210
3-Hydroxyisovaleric acid, 103, 110, 111, 197 Intracranial pressure, 262
p-Hydroxyphenyl, 68, 71 Intractable seizures, 220, 279-284, 286
p-Hydroxyphenylpyruvic acid dioxygenase, 49, 63-65 Intragastric infusion, 300, 301
3-Hydroxypropionate, 231, 233 Intravascular thromboses, 138
Hyperactivity, 2 Irregular respiration, 75
Hyperaminoaciduria, 262, 314 Irritability, 78, 107, 126, 169, 234, 314, 326, 366, 406,
Hyperammonemia, 103-105, 114, 197, 198, 209-211, 419
213, 215, 230, 231, 325, 381, 384, 406, 408, Isobutrylglycine, 197
410, 413, 418, 419, 421, 424, 428 Isobutyric acid, 197
Hyperbilirubinemia, 314 Isoleucine, x, xi, xii, xiii, xiv, 74, 76-79, 81-83, 85, 104,
Hypercalcemia, 366, 367, 373, 375, 376 107, 123-127, 129-131, 133, 197, 198, 230-239,
Hypercholesterolemia, 296, 297 243, 244, 247
Hyperglycinemia, 124, 172, 226, 230, 231 Isomil, vii, xiii, xiv, xvi, 12, 58, 70, 87, 117, 133, 148,
Hyperkeratosis, 64 178, 213, 216, 223, 226, 243, 262, 263, 265,
Hyperlacticacidemia, 231, 297 267, 268, 274, 332, 373, 387, 414, 429, A-5
Hyperlipidemia, 296, 420 Isoretinoin, 343
Hyperlipoproteinemia type I, xv Isovaleric acid, xi, 103, 104, 111, 197
Hyperlipoproteinemia type IIa, xvi Isovaleric acidemia, xi, xii, 103, 104, 110, 112, 119
Hyperlipoproteinemia type IIb, xvi Isovaleryl-CoA dehydrogenase, xii, 103
Hyperlipoproteinemia type III, xvi Isovaleryl-CoA dehydrogenase deficiency, 103, 104
Hyperlysinemia, 325 Isovalerylglycine, xi, 103, 110, 197
Hypermethioninemia, xiii, 137, 138 I-Valex, xii, xiii, 103, 105, 106, 108-114, 116, A-2, A-3
Hypernornithinemia - hyperammonemia -
homocitrullinuria syndrome, xvi, 406, 41-415, J
419 Jaundice, 50, 262, 263, 313, 314
Hyperornithinuria, 380, 381, 406
Hyperphenylalaninemia, 1, 2 K
Hyperpnea, 105 Ketamine, 220
Hypertonia, 75, 231 Ketoacidosis, 231
Hypertriacylglycerolemia, 280, 296-298 Ketoacids, 81, 111, 129, 133, 237
Hyperuricemia, 296, 297 3-Ketoacyl-CoA thiolase, 350
Hyperventilation, 231 2-Ketoadipic acid, 166, 168
Hypoalbuminemia, 173, 280, 282, 314 2-Ketoadipic aciduria, xiii, 166, 167, 176, 178, 192
Hypobetalipoproteinemia, xv 2-Ketoadipic dehydrogenase, xiii, 166, 167
Hypocalcemia, 104 Ketogenesis, 282, 283
Hypocarnitinemia, 281 Ketogenic diet, xiv, xv, 279-282, 286, 287, 291, 292
Hypocholesterolemia, 314 Ketones, 125, 234, 240, 280, 281, 285, 350
Hypodensity of myelin, 221 Ketonex, xii, 74, 76, 77, 79-84, 86, 124, 125, 127-132,
Hypoglycemia, 105, 167, 197, 230, 286, 296, 297, 301, A-2, A-3
302, 313, 326, 328, 353 Ketonuria, 105, 197
Hypogonadism, 263 Ketosis, 123, 124, 167, 221, 233, 281-285
Hypogonadotropic hypogonadism, 263
Hypokalemia, 262 L
Hypoketotic hypoglycemia, 196, 351 Lactate dehydrogenase, 279, 325
Hypophosphatemia, 262 Lactic acid, 197, 279-282, 285, 297, 298, 300, 302,
Hypoproteinemia, 4 314, 315, 325, 326
Hyporeflexia, 281 Lactic acidemia, 280, 282, 296
Hypospadias, 197 Lactic acidosis, 279-281, 283, 301
U
Ubiquinone, 196
Urate, 314, 315, 351
Urea cycle disorders, 418, 429, 430
Urea cycle enzyme defects, 406, 419
Urea cycle function, 209
Uric acid, 297, 302
Uridine diphosphate-galactose-4-epimerase, 262, 263
Uridine diphosphate-galactose-4-epimerase deficiency,
263
Uridine therapy, 263
V
Valine, x-xiv, 74, 76-79, 81-83, 85, 107, 124-127, 129-
131, 197, 198, 230-239, 243, 244, 247
Valproate, 172, 406, 419, 428
Very-long-chain-acyl-CoA dehydrogenase, 350
Very-long-chain-acyl-CoA dehydrogenase deficiency,
xv, 351
Very-long-chain-fatty acid oxidation defects, 352, 353
Vi-Daylin Multivitamin + Iron, A-10
Vitamin A, 37, 38, 139
Vitamin B12, xi, 8, 35, 37, 38, 138, 231
Vitamin B6, 138, 139, 379, 381
Vomiting, 49, 50, 75, 103-105, 166, 167, 197, 200,
210, 220, 221, 230, 231, 262, 263, 280, 285,
313, 314, 328, 350, 351, 353, 354, 406, 419
Von Gierke's disease, 296
W
Williams syndrome, xvi, 366, 367, 370