Diseases and Deficiencies

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Disease
Adenosine Deaminase (ADA)Deficiency
Albinism(complete-Tyrosinase negative oculocuaneous albinism
Alkaptonuria
Anderson Disease
Beriberi
Carbamoylphosphate synthetase (CPS1) Deficiency
Celiac Disease (Celiac sprue)
Creutzfeldt-Jakob disease: type of transmissible spongiform encephalopathy
Cystic Fibrosis
Cystinuria
Diabetes Mellitus Type 1
Diabetes Mellitus Type 2
Duchenne Muscular Dystrophy
Ehlers-Danlos Syndrome (EDS)(Group of diseases of connective tissue)
Emphysema -genetic
Essential Fructosuria
Fabry Disease
Folic Acid deficiency
Fragile X-syndrome
Fructose Intolerance (Fructose poisoning)
Galactokinase Deficiency
Galactosemia
Gaucher Disease
Glucose 6-phosphate dehydrogenase(G6PD) deficiency
Gout
Hartnup Disorder
HbC-Hemoglobin C Disease
HbS- Sickle Cell Disease
HbSC Disease-Hemoglobin SC Disease
Hemophilia A
Hereditary nonpolyposis colonrectal cancer (HNPCC)-Lynch syndrome

Diseases and Deficiencies

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Disease
Hers Disease
Histidemia
Homocystinuria
Hunter Syndrome MPS II
Huntington Disease
Hurler Syndrome MPS 1H
Hyperlipidemia Type I; Hyperlipoproteinemia Type I
Hyperlipidemia Type IIa;Hyperlipoproteinemia Type IIa;Familiar Hypercholesterolemia (FHC)
Hyperlipidemia Type III;Hyperlipoproteinemia Type III(broad beta disease);Familial Dysbetalipoproteinemia
Hyperlipidemia Type IV; Hypertriglyceridemia
Hyperlipidemia Type V
Hypervitaminosis A
I-Cell Disease;Glycoprotein storage disease
Kwashiorkor
Lactose Intolerance
Lecithin Acylcholesterol Transferase (LCAT) Deficiency
Lesch-Nyhan syndrome
Maple Syrup Urine Disease
Marasmus
Marfan Syndrome
McArdle Syndrome; GSD Type V
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
Methemoglobinemia
Methylmalonyl CoA mutase Deficiency
Mytonic Dystrophy I
Neonatal Jaundice
Niemann-Pick Disease
Ornithine transcarbamoylase deficiency
Orotic Aciduria
Osteogenesis Imperfecta (OI):Brittle Bone syndrome
Parkinson Disease

Diseases and Deficiencies

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Disease
Pellegra
Phenylketonuria
Pompe Disease; GSD Type II
Porphyria Cutanea Tarda
Porphyria: Erythropoietic Protoporphyria
Porphyria:Acute Intermittent (AIP)
Pyruvate Dehydrogenase Deficiency
Pyruvate Kinase Deficiency
Riboflavin deficiency
Rickets
Scurvy
Sly Syndrome MPS VII
Tangier Disease
Tarui Disease
Tay-Sachs Disease
Thallassemia-beta (-Thallassemia)
Thallassemia-beta (-Thallassemia)
Tyrosinemia
Vitamin A deficiency
Vitamin B12 deficiency
vitamin B6 deficiency
Vitamin K deficiency
von Gierke Disease; GSD Type 1a
Von Willebrand Disease
Wernicke-Korsakoff Syndrome
Xeroderma pigmentosum

Diseases and Deficiencies

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Deficiency;Reason
ADA
Tyrosinase
homogentisic acid oxidase
Branching enzyme
Thiamine-deficiency
CPS1
immune-mediated damage to small intestine due to response to the protein gluten
Prion Disease
cystic fibrosis transmembrane conductance regulator(CFTR)
amino acid tranport of Cys, Ornithine, Arg and Lys (dibasic a.a.)
Insulin production-autoimmune attack on pancreas; destruction of-cells;
Insulin resistance; dysfunctional -cells
Mutation in DMD: muscle dystrophin
Connective tissue diseases:defects in enzymes in collagen synthesis,eg: lysyl hyroxylase or procollagen peptidase
1-Antitrypsin deficiency
Fructokinase
-Galactosidase A
Folic Acid(Inability to form THF and derivatives)
Extended Nucleotide Repeat: CGG on X chromosome in 5'untranslated region of FMR1 gene
Aldolase B
Galactokinase
Uridyltransferease
Glucocerebrosidase
G6PD
High uric acid:Underexcretion of uric acid; Overproduction of urice acid: target xanthine oxidase
amino acid tranport of Trp and other neutral a.a.
SNP: Glu-->Lys on 6th position of Beta subunit of Hb
SNP: Glu-->Val on 6th position of Beta subunit of Hb
Mixture of HbS and HbC mutations on Beta subunits
Factor VIII
Mutation in mismatch DNA Repair

Diseases and Deficiencies

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Deficiency;Reason
Hepatic alpha-glucanphosphorylase (GSD Type VI)
histidase
cystathionine synthase
Iduronate sulfatase
Polyglutamine expansion in the Huntingtin gene
-L-iduronidase
39 Lipoprotein Lipase
40 LDL receptors
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Homozygous for apoE2 (poor binding of chylomicron remnants and IDL)

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Overproduction of VLDL;Decreased clearing of VLDL

Increased VLDL and decreased Lipoprotein lipase
excessive retinoids
phosphorylation of mannose:Lysosomal acid hydrolyase is deficient due to inability to target proteins to lysosomes
Protein deficiency
Lactase(-galactosidase)
LCAT;inability to esterify cholesterol
Hypoxanthine guanine phosphoribosyl transferase (HGPRT)
branched-chain -keto acid dehydrogenase
Calorie deficiency
Fibrillin: Cannot from correct fibrils for elastin: lose elasticity
Muscle Glycogen Phosphorylase
MCAD
NADH-cytochrome b5 reductase; mutations in Hb chians that cause Fe+2 oxidation-->Fe+3
Methylmalonyl CoA mutase
DMPK: codes for myotonic dystrophy protein kinase

Bilirubin glucuronyltransferase
Sphigomyelinase
Ornithine transcarbamoylase
Orotate phosphoribosyl transferase and OMP decarboxylase
Most common mutation: -Gly-X-Y- replaced with bulky a.a.--> abnormal pro-alpha chains-->no triple-helical formation
Insufficienct dopamine producing cells in brain: dopamine -hydroxylase

Diseases and Deficiencies

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Deficiency;Reason
Niacin-deficiency
Phenylalanine hyroxylase(PAH) (Classic)-Most Common inherited disease of amino acid metabolism
Lysosomal(1-->4) Glucosidase
Uroporphyrinogen oxidase
Ferrochelatase
Hydroxymethylbilane synthase
PDH
Pyruvate Kinase
Vit B2
Vitamin D deficiency (1,25 dihyroxycholecalciferol)
Vit C ; ascorbic acid
-glucuronidase
ABCA1 transporter of cholesterol out of cells
Muscle Phosphofructokinase (GSD Type VII)
Hexosaminidase A
synthesis of alpha chains: decreased or absent (often times due to deletions)
synthesis of beta chains: decreased or absent
fumarylacetoacetate hydrolase
Retinol
Cobalamin
Pyridoxamine
Phylloquinone
Glucose 6-Phosphatase
von Willebrand Factor (vWF)
Thiamine-deficiency: primariy in associated with chronic alcohlics
Mutation in UV-damage repair of DNA (nucleotide excision)

Diseases and Deficiencies

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Biochemical Pathway
Purine degradation
Melanine synthesis (Tyrosine Met)
Tyrosine Metabolism
glycogen synthesis
Nutrition
Urea cycle
intestinal absorption
Protein Folding
Chloride Transport
a.a. absorption
Glucose Transport
Glucose Transport
Muscle Protein
Collagen
Elastatin
Fructose Metabolism
Sphingolipidoses
Nutrition
Trinucleotide repeats
Fructose Metabolism
Galactose Metabolism
Galactose Metabolism
Sphingolipidoses
PPP(HMPS)
Purine degradation
a.a. absorption
Hemoglobin
Hemoglobin
Hemoglobin
Coagulation
DNA Repair

Diseases and Deficiencies

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Biochemical Pathway
Glycogenolysis
Histidine metabolism
Methionine metabolism
Glycosaminoglycans
Trinucleotide repeats
Glycosaminoglycans
Lipoproteins
Lipoproteins
Lipoproteins
Lipoproteins
Lipoproteins
Nutrition
Glycoprotein storage
Nutrition
Lactose metabolism
Lipoproteins
Purine Slavage pathway
Val, Ile, Leu Metabolism
Nutrition
Connecive Tissue
Glycogenolysis
Fatty Acid Oxidation
Hemoglobin
Odd-chain fats and -keto acid Met
Trinucleotide Repeat:Muscle Protein
Bilirubin degradation
Sphingolipidoses
Urea cycle
Pyrimidine synthesis
Collagen
Catecholamine synthesis

Diseases and Deficiencies

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Biochemical Pathway
Nutrition
Phe Metabolism
Glycogenolysis
Heme Synthesis
Heme synthesis
Heme synthesis
Pyruvate
Glycolysis
Nutrition
Nutrition ; Renal; PTH
Nutrition
Glycosaminoglycans
Lipoproteins
Glycolysis
Sphingolipidoses
Hemoglobin
Hemoglobin
Tyrosine metabolism
Nutrition
Nutrition
Nutrition
Nutrition; Acquired:Clotting Pathway
Gluconeogenesis
Coagulation
Nutrition: Alcoholism
DNA Repair

Diseases and Deficiencies

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Symptoms
Severe combined Immunodeficiency syndrome (SCID) by 6 months:mortality ~2year, delayed and late onset:severe infections; pa
Hypopigmentation; nastigmus;strabismus
Ochronosis; large joint arthritis;elevated homogentisic acid in urine (turns black on standing)
Unbranched glycogenL amylose which can preciptate in heart and liver(cirrhosis)--> death by 5 year
Infantile: tachycardia, vomiting, convulsions, death; Adult: dry skin, irritability, disorderly thinking, progressive paralysis
Hyperammonemia; metal retardation
Gastrointestinal symptoms of fat malabsorption:diarrhea, malodorousflatulence, abdominalbloating, and(steatorrhea).
Progressive death of brain nerve cells due to prions; dementia, ataxia;seizures
Salty skin; accumulation of mucus in membranes;frequent chest infections and coughing, shortness of breath, pancreatitis
dibasic amino acids appear in urine; kidney stones formed by precipitation of Cys
Hyperglycemia; Ketoacidosis; Hypertriglycerolemia;atherosclerosis; vascular disease; neuropathy usually diagnosed in childhood(
Hyperosmolar Hyperglycemia state(HHS); can develop into general organ dysfunction, heart, kidney, vascular;neuropathy;associ
Muscle Degeneration; loss of ambulation; death
Hyperelasticity of skin, hyperextensibility of joints; abnormal wound healing; easy bruising,fragile blood vessels with tendency for
Damage to alveoli: distruction of connecive tissue of alveolar walls normally protected from proteases by alpha1-antitrypsin; Type
Fructosuria;benign
Reddish-purple skin rash;Kidney and Heart Failure, Burning Pain in lower extremities
Megaloblastic Anemia; Neural tube defects(Spina bifida)
No FMR1 gene expression needed for brain development; most common inheritable cause of mental retardation: Males severely a
Severe Hypoglycemia; vomiting;jaundice;hepatic failure
Galactosemia and Galactosuria;increase in galactitol
Galactosemia and Galactosuria;increase in galactitol;vomiting;diarrhea, jaundice;Mental retardation
Most common lysosomal storage disease;Hepatosplenomegaly;Osteoporosis of long bones
Hemolytic Anemia
Acute and chronic gouty arthrities due to monosodium urate crystals deposited in joints; deposition of tophaceous material
pellegra-like dermatologic and neurologic symptoms:cerebral ataxia
Mild, chronic hemolytic anemia
Lifelong episodes of pain(crises)due to sickling of RBC --> microinfarcts starting in childhood;chronic hemolytic anemia; increased
May remain well until suffer from infarctive crisis-can be triggered by childbirth or surgery
Bleeding; Hematomas; inability to clot
High incidence of colorectal cancer: increased risk of other cancers, e.g. uterine cancer

Diseases and Deficiencies

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Symptoms
Hepatomegaly; relatively benign
Elevated levels of histidine in blood and urine
Mental retardation; osteoporosis; Myocardial infarction;lens ectopia; accumulation of homocystein in urine and Methionine and m
Variation of severity;No corneal cluding; physical deformity and metaol retardation varies
Abnormal, involuntary jerking body movements, unsteady gait, psychiatric changes, dementia; appears in middle age
Most severe form of Mucopolysaccaridoses:Corneal Clouding;Mental retardation, dwarfing,coarse facial features

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Accumulation of chylomicrons in plasma (<1000mg/dl); milky serum

40 Elevated LDL and plasma cholesterol (500-800mg/dl);premature atherosclerosis;Xanthomas

41 Hypercholesterolemia and premature atherosclerosis
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High blood triglycerides, obesity, can be associated with Type II diabetes;increased risk of coronary atherosclerosis
Hypertiglyceridemia and hyperchylomicronemia
Dry and puritic skin,enlarged liver which can become cirrhotic; rise in intracranial pressure
Skeletal abnormalities, restricted joint movement, coarse facila features, severe psychomotor impairment; Death by 8yr
Stunted growth, edema(deceptively plump belly), skin lesions, depigmented hair, anorexia;decreased plasma albumin
Ingestion of lactose containing products causes diarrhea, abdominal cramps, flatulence
Increased tissue cholesterol; Diffuse corneal opacities(Fish-eye disease-partial LCAT deficiency);proteinuria,hepatic failure, hemol
Motor dysfunction, cognitive deficits,self-mutilation, hyperuricemia, gout, gouty arthritis
Neurologic problems; high mortality; branched chain a a. and-keto analogs are elevated in plasma and urine
Arrested growth, extreme muscle wasting (emaciation), weakness and anemia ( not edema)
Lens ectopia(displaced lens); elongation of limbs; arachnodactyly;Rupture of an ascending aortic aneurysm is the most common c
Muscle Cramping;Myglobinuria;Relatively benign, chronic
Children sensitive to hypoglycemia; has been connected to SIDS; can suddenly present will flu like syndromes
Chocolate cyanosis:brownish-blude of membranes; chocolate-colored blood due to metHb; Tissue hypoxia; anxiety, headaches, d
Metabolic acidosis; developmental problems; elevated levels of methyl-malonyl CoA in blood
Type of muscular dystrophy; muscle wasting;myotonia, muscle weakness
Usually in premature infants;Elevated bilirubin that diffuses into tissue: yellow hue: can lead to kernicterus(toxic encephalapathy)
Hepatosplenomegaly; Neurodegenerative; accumulation of sphingomyelin
Hyperammonemia; mental retardation
Megaloblastic anemia; poor growth; large amounts of orotate in urine
Bones easily bend or fracture; retarded wound healing; rotated and twisted spine "humped-back"; Type II fetus dies in utero
Bradykinesia; tremors, rigidity, poor balance, parkinsonian gait

Diseases and Deficiencies

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Symptoms
3 D's: Dermatitis, Diarrhea, Dementia and if untreated death
Urine has "musty"odor; Elevated levels of Phe in urine, tissue , plasma; Mental retardation, failure to walk or talk, microcephaly
Cardiomegaly;Infantile form:deathExcess Glycogen in lysosomal vacuoles
Affects hepatic and erythropoietic tissues;Photosensitivity; Most common type of porphyria; Uroporphyrin accumulates in urine: p
Type of erythropoietic porphyria;Photosensitivity; Protoporphrin accumulates in erythrocytes, bone marrow and plasma
Abdominal pain occurs in 90-95% of the attacks. Some patients develop psychiatric symptoms such as psychosis similar to schizo
Lactic acidosis
Hemolytic Anemia
Dermatitis, cheilosis(fissuring at the corner of mouth), glossitis(tongue smooth and purple)
Demineralization of bone; Osteomalacia in adults;Renal: decreased synthesis of kidney of active Vit D3; PTH: Lack of PTH to stimu
Sore and spongy gums, loose teeth, fragile blood vessels, swollen joints
Corneal cluding,hepatosplenomegaly, skeletal deformity, short stature, mental deficiency
Hypocholesterolemia; Enlarged Orange-yellow tonsils(cholesrerol deposits);Hepatomegaly and splenomegaly;decreased HDL
Normal glycogen in muscle, muscle cramping; myoglobinuria
Rapid and progessive neurodegeneration; Cherry-red macula; blindness, msucular weakness, death by 2yr;accumulation of GM2
Trait:2 defective alpha-gene;3 defective genes:HbBart 4 or HbH 4:chronic hemolytic anemia of variable severity; 4 defective ge
Trait:1 defective beta-gene; Cooleys anemia: both-genes defective:does not present until later in first or second year;Anemia-bl
Cabbage like odor; liver failure; renal acidosis; accumulation of fumarylacetacetate and succinyl acetone in urine
Deficiency: Night blindness; severe deficiency: xerophthalmia:(dry eye which can lead to corneal ulceration and blindness
Intrinsic Factor :Pernicious Anemia--> irreversible neuropsychiatric symptoms: Nutritional: vegan; Malnutrition; Megaloblastic ane
Seborrhoeic dermatitis-like eruption,glossitiswithulceration,angular cheilitis,conjunctivitis,neurologic symptoms ofsomnolence
Hypoprothrombinemia; bleeding; May be due to malabsorption of fat
Fasting hypoglycemia; Hyperlactacidemia, Hyperlidpidemia, Hyperuricemia;Excessive Hepatic Glycogen stores
Tendency to Bleed, Nosebleeds,most common inherited coagulation abnormality in humans
Korsakoff syndrome:Apathy, loss of memory hallucinations; Wernicke encephalopathy: nystagmus, double vision, ataxia
Sensitive to UV light-Tissue scarring--> can lead to partial lose of tissue (nose etc)

Diseases and Deficiencies

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Genetics
Recessive
Recessive
Recessive
Recessive
Recessive
Recessive
Recessive
Acquired
Recessive; Newborn Screening
Recessive

X-linked
Some Dominant/some recessive
autosomal codominant pattern
Recessive
X-linked
Acquired/Genetic(Recessive)
X-linked
Recessive
Recessive
Recessive:Newborn screening
Recessive
Multiple Types; Class IV>60% enzyme activity
Recessive
Recessive
Recessive
Recessive;Newborn Screening
Recessive
X-linked
Dominant

Diseases and Deficiencies

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Genetics
Recessive
Recessive
Recessive: Newborn Screening
X-linked
Dominant
Recessive
Recessive
Dominant
Recessive
Recessive
Recessive
Acquired
Recessive
Acquired
primary:aging;secondary: illness or injury to small intestine;Congenital:recessive
Recessive
X-linked
Recessive: Newborn Screening
Acquired
Dominant
Recessive
Recessive: Newborn Screening
Recessive
Recessive
Dominant
Recessive
Recessive
X-linked
Recessive
Dominant
Some forms are Recessive/Dominant depending on mutation

Diseases and Deficiencies

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Genetics
Acquired
Recessive: Newborn Screening
Recessive
Dominant
Dominant
Dominant
X-linked but dominant(Male and females)
Recessive
Acquired
Acquired
Acquired
Recessive
Recessive
Recessive
Recessive
Recessive
Recessive
Recessive: Newborn Screening
Acquired
Acquired
Acquired
Recessive
Recessive
Dominant/Recessive
Recessive
Recessive