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Implications of Maple
Syrup Urine Disease Status
Post Liver Transplantation
Courtney Merlo, Dietetic Intern
15 June, 2017
Define and understand Maple Syrup Urine Disease (MSUD)
Review nutritional guidelines associated with branched chain
amino acid metabolism
Understand the implications of liver transplantation
Objectives Identify nutritional barriers the dietitian faces in the MSUD pre-
versus post-liver transplantation populations
Review the nutrition care process in relation to the case study
patient
Address and discuss research articles
Patient Profile:
Y.M.
20 year old female
Single
Living at home, patient mother is caregiver
Patient Profile: High school education
Y.M. Attends school during the day
Will graduate this year from special education program
Enjoys participating in school events and going to school dances
Disease
Background
Disease Maple Syrup Urine Disease (MSUD) is an inborn genetic error of
metabolism caused by a deficiency in branched chain alpha-
Background: ketoacid dehydrogenase complex (BCKDC)
Genetics MUSD has autosomal recessive inheritance
Disease
Background:
Genetics
Classic MSUD typically presents in newborns
Symptoms usually develop within 48 hours following birth
Disease Can be delayed depending on feeding regimen
Background: Symptoms include ketonuria, irritability, poor feeding, vomiting,
lethargy, and dystonia
Clinical Elevated plasma levels of branched-chain amino acids;
Features leucine, isoleucine, and valine
January 2017
Repeat biopsy showed again the presence of rejection
History of
March 22- April 8, 2017
Present Illness Recent prolonged hospitalization
Presented for worsening LFTs
Treated for rejection with Rituximab, basiliximab and high dose
steroids while admitted
Pulmonary Embolism
Lovenox
Oral contraceptives discontinued
Tachycardia
Iron replacement for iron deficiency anemia
Medications Cellcept
Diflucan
Prograf
Mycophenolate mofetil
Fluconazole
Tacromilus
Anti-rejection
Anti-fungal
Anti-rejection
During DDAVP
Mag-Ox
Desyrel
Desmopressin
Magnesium oxide
Trazodone
Reduces urine production
Supplement
Anti-depressant
Encounter Mycostatin
Valcyte
Nystatin
Valganciclovir
Anti-fungal
Anti-viral for organ transplant patients
Actigall Ursodiol Dissolves gallstones
Hospitalization Bactrim
Prilosec
Sulfamethoxazole
Omeprazole
Antibiotic
Reduces stomach acid
K-dur, Klor-Con Potassium chloride Supplement
Protonix Pantoprazole Reduces stomach acid
Eliquis Apixaban Blocks formation of blood clots
Lovenox Enoxaparin Blocks formation of blood clots
Iron Ferrous sulfate Supplement
Height = 55 in
Nutrition Weight = 77 kg
Assessment: Usual Body Weight = 68.2 kg
Weight History BMI: 39.4 kg/m2, per mothers report patient weighed 63.6 kg
approximately 6 months ago
Weight gain attributed to initiation of long term steroid
medication
Nutrition
Assessment:
Food/Nutrition
-Related
History
Nutrition Daily Intake:
Assessment: Dislikes all protein foods
Patients mother tried multiple ways to get the patient to consume
Food/Nutrition protein but patient dislikes all options besides dry hamburgers or
chicken patties
-Related Likes: cereal, vegetable soup, Lean Cuisines, rice, pasta, vegetables
Drinks: Water, Tea, Diet Cola
History
Nutrition Previous Diet Therapy:
Protein restricted for 9 years due to history of MSUD
Assessment: Mother reports patient was extremely compliant with dietary
restrictions
Food/Nutrition Patients diet consisted of high carbohydrate foods
-Related Following liver transplantation, mother encouraged protein foods
but patient dislikes
History Continues on a carbohydrate rich diet
Nutrition Hospital Diet Prescription
Assessment: Regular with Vanilla Ensure Enlive twice daily
Other problems:
Client History Mother (caregiver) prepares meals
Special education teachers at school help her warm up lunches
Initial diagnosis
Diagnosed 17 days after birth through U of M newborn screening
Patients Knowledge of Disease and Treatment
Patient extremely compliant with dietary restrictions for first 9 years
of life
Mother is extremely involved in the care of her daughter, extremely
knowledgeable about nutrition implications of disease
Nutrition Nutritional Intervention Prior to Admission
Prior to Liver transplantation
Assessment: Protein restricted diet
Client History Extremely compliant
Post liver transplantation
Regular diet
Avoids high protein foods
Extremely picky
Struggling with weight gain due to steroid treatment
Problems/Solutions with the disease course and treatment
Followed protein restricted diet for 9 years, extremely compliant
Patient with developmental delays
Patient had a liver transplantation
November 2014
Liver Rejection
Nutrition Started on Prednisone therapy in September 2016
Patient has a history of maple syrup urine disease and was protein restricted x
9 years.
patient dislikes all protein foods even now without any restriction,
mother has tried multiple ways to get the patient to consume protein
patient dislikes all options besides dry hamburgers or chicken patties.
Subjective Patient tried vanilla Ensure for the first time during this admission and per
mother "she chugged it
encouraged intake of these during admission and upon discharge
Steroids are to be continued x 6-7 more weeks and at that time
Mother expresses she wants to make weight loss for the patient a priority.
Mother is extremely knowledgeable regarding patients disease and nutrition.
Verbally provided general MyPlate Guidelines
Patient with no diet restrictions at this time and mother denied any issues
chewing/swallowing for the patient.
1.) Order Vanilla Ensure twice daily
Nutrition 2.) Daily Multivitamin
Interventions Verbally provided general healthy eating guidelines per mother
request due to weight gain from steroid treatment
Single; lives with parents
Nutrition Lives at home with her bedroom and bathroom on the same floor
Monitoring Assistive equipment
and Cane
Wheelchair
Evaluation: Shower chair
Methods
The MSUD workgroup consisted of eight experienced metabolic dietitians who began the process by independently
identifying over 40 practice areas where uncertainty and/or variation in practice existed. Because of the known scarcity of
peer-reviewed scientific literature in nutrition management of IMDs, the search process included both published scientific
studies and gray, or practice, literature. Each scientific article was critically reviewed by a trained analyst using a Quality
Research Criteria Checklist, and the study design and methodology, findings, and author's conclusions were abstracted to Evidence
Abstract Worksheets. Specific recommendations for nutrition management in each of the five topic areas were derived
from the summaries, and each recommendation was rated with respect to strength
Article #1 Results
Nutrition therapy plays an essential role in restoring and maintaining metabolic homeostasis in MSUD. The goal of dietary
BCAA restriction for the individual with MSUD is to achieve and maintain plasma BCAA concentrations as close to normal
as possible while preventing and correcting BCAA deficiencies. Thiamin pyrophosphate (TPP) is a co-factor for the multi-
subunit enzyme, BCKD, and thiamin is an adjunct to be considered in the treatment regime for MSUD. The woman with
MSUD who is pregnant requires increased protein intake to support the proliferation of maternal tissues and growth of the
fetus, while keeping the plasma BCAA within the treatment range to maintain metabolic homeostasis. Liver
transplantation is a viable option for individuals with MSUD [12,5356] and the risks and benefits should be evaluated on a
case-by-case basis [5759].
Conclusions
The backbone of this guideline comes from the five research questions. These were chosen based on the workgroup's
assessment of nutritional management topics that were inadequately addressed in the literature or for which there
appeared to be divergent opinions. The recommendations that are derived from the assessment of all sources vary widely
in the strength of their ratings (from A to E). Those recommendations with the weakest ratings had no or few published
studies on the topic, had studies that failed to demonstrate statistical significance, and/or were addressed mainly through a
consensus process. This does not signify that a recommendation with a weak rating should be ignored, or is invalid. But, it
does highlight the fact that there are no adequate peer reviewed publications describing well-designed studies on the topic
Abstract Results
An 8.5-year-old girl with Steady-state leucine levels
classical maple syrup urine and leucine variability were
disease (MSUD) required liver significantly lower post-
transplantation for transplant as weight-adjusted
hypervitaminosis A and was leucine tolerance increased
effectively cured of MSUD from 1537 mg/kg/day to
over an 8-year clinical follow- greater than 140 mg/kg/day.
Research up period