Term
| Galactose-1-phosphate uridyltransferase |
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
| Failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation |
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Term
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Definition
| Galactose in blood and urine, infantile cataracts. Initial presentation may include failure to track objects or develop a social smile |
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Term
| Liver, ovaries, seminal vesicles |
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Definition
| Tissues that express BOTH aldose reductase and sorbitol dehydrogenase |
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Term
| Schwann cells, lens, retina, kidneys |
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Definition
| Tissues that have only aldose reductase |
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Term
| Ornithine transcarbamoylase deficiency |
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Definition
| Most common urea cycle disorder |
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Term
| Ornithine transcarbamoylase deficiency |
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Definition
| Orotic acid in blood and urine, low BUN, symptoms of hyperammonemia |
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Term
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Definition
| Breakdown product of dopamine |
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Term
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Definition
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Term
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Definition
| Breakdown product of epinephrine |
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Term
Penylalanine hydroxylase deficiency
Tetrahydrobipterin cofactor deficiency |
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Definition
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Term
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Definition
| Mental retardation, growth retardation, seizures, fair skin, eczema, musty body odor |
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Term
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Definition
| Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease |
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Term
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Definition
| Fabry's disease enzyme deficiency |
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Term
| Ceramide trihexoside accumulation |
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Definition
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Term
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Definition
| Most common human enzyme deficiency |
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Term
| Cystathionine synthase OR homocysteine methyltransferase |
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Definition
| Deficient enzyme in homocystinuria |
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Term
| Tyrosinase OR defective tyrosine transporters OR failure of neural crest cells to migrate |
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Definition
| Enzyme deficiency in albinism |
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Term
| Homogenistic acid oxidase (tyrosine degradation) |
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Definition
| Enzyme deficiency in alkaptonuria |
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Term
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Definition
| Marphanoid symptoms + osteoporosis + mental retardation |
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Term
| Renal tubular amino acid transporter |
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Definition
| Enzyme defect in cystinuria |
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Term
COLA
Cysteine, ornithine, lysine, arginine |
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Definition
| Amino acids not transported in cystinuria |
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Term
| Acetazolamide to alkalinize the urine |
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Definition
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Term
| Alpha-ketoacid dehydrogenase |
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Definition
| Enzyme deficiency in maple syrup urine disease |
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Term
I Love Vermont maple syrup from maple trees (with branches)
Blocked degradation of Isoleucine, Leucine, Valine (branched amino acids)
Increased alpha-ketoacids in the blood |
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Definition
| Maple syrup urine disease pathophys |
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Term
| Neutral amino acid transporter on renal and intestinal epithelial cells |
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Definition
| Deficiency in Hartnup disease |
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Term
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Definition
| Tryptophan excretion in urine and decreased absoprtion from the gut |
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Term
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Definition
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Term
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Definition
| Enzyme deficient in Von Giercke's disease (type I glycogen storage disease) |
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Term
| Lysosomal alpha-1,4-glucosidase |
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Definition
Enzyme deficiency in Pompe's disease
(type II glycogen storage disease) |
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Term
| Debranching enzyme (alpha-1,6-glucosidase) |
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Definition
| Enzyme deficiency in Cori's disease (type III glycogen storate disease) |
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Term
| Skeletal muscle glycogen phosphorylase |
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Definition
| Enzyme deficiency in McArdle's disease (type IV glycogen storage disease) |
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Term
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Definition
| Severe fasting hypoglycemia, very high glycogen in liver, high blood lactate, hepatomegaly |
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Term
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Definition
| Cardiomegaly and systemic findings leading to early death |
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Term
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Definition
| Milder form of type I glycogen storate disase with normal blood lactate levels |
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Term
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Definition
| Increased glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenous exercise |
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Term
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Definition
| Hepatosplenomegaly, aseptic necrosis of femur, bnoe crises |
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Term
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Definition
| Most common lysosomal storage disorder |
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Term
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Definition
| Macrophages that look like crumpled tissue paper |
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Term
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Definition
| Enzyme deficiency in Gaucher's disease |
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Term
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Definition
| Accumulated substrate in Gaucher's disease |
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Term
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Definition
| Enzyme deficiency in Niemann-Pick disease |
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Term
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Definition
| Accumulated substrate in Niemann-Pick disease |
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Term
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Definition
| Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells |
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Term
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Definition
| Enzyme deficiency in Tay-Sachs disease |
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Term
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Definition
| Accumulated substrate in Tay-Sachs disease |
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Term
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Definition
| Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly |
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Term
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Definition
| Enzyme deficiency in Krabbe's disease |
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Term
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Definition
| Accumulated substrate in Krabbe's disease |
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Term
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Definition
| Peripheral neuropathy, developmental delay, optic atrophy, globoid cells |
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Term
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Definition
| Enzyme deficiency in metachromatic leukodystrophy |
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Term
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Definition
| Accumulated substrate in metachromatic leukodystrophy |
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Term
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Definition
| Developmental delay, gargolysm, airway obstruction, corneal clouding, hepatosplenomegaly |
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Term
| Metachromatic leukodystrophy |
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Definition
| Central and peripheral demyelineation with ataxia, dementia |
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Term
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Definition
| Enzyme deficiency in Hurler's syndrome |
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Term
| Heparan sulfate, dermatan sulfate |
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Definition
| Accumulated substrates in Hurler's syndrome |
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Term
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Definition
| Mild Hurler's + aggressive behavior, no corneal clouding |
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Term
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Definition
| Deficient enzyme in Hunter's syndrome |
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Term
| Heparan sulfate and dermatan sulfate |
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Definition
| Accumulated substrate in Hunter's syndrome |
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