| Term | Definition |
|---|
| ornithine transcarbamoylase deficiency | most common urea cycle deficiency. x-linked recessive. orotic acid in blood and urine. low BUN, hyperammonemia |
| phenylketonuria | deficiency in phenylalanine hydroxylase or tetrahydrobiopterin cofactor. tyrosine becomes essential. phenylketones in urine. MR, grown retardation, seizures, fair skin, eczema, musty body odor |
| albinism | tyrosinase deficiency or defective tyrosine transporters |
| homocysteinuria | cystathionine synthase deficiency, decreased affinity of cystathionine synthase for pyridoxal phosphate, or homocysteine methyltransferase deficiency. MR, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis |
| cysteinuria | defect of renal tubular transporter for cysteine, ornithine, lysine and arginine. cystine kidney stones. |
| maple sugar urine disease | blocked degradation of branched amino acids to decreased alpha-ketoacid dehydrogenase. CNS defects, MR, death |
| adenosine deaminase deficiency | major cause of SCID |
| Lesch-Nyhan syndrome | defective purine salvage due to absence of HGPRT. Excess uric acid production. MR, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis |
| Von Gierke's disease (type I) | glucose-6-phosphatase deficiency. severe fasting hypoglycemia, elevated liver glycogen and blood lactate, hepatomegaly |
| Pompe's disease (type II) | lysosomal alpha-1,4-glucosidase deficiency. cardiomegaly, liver and muscle damage, early death |
| Cori's disease (type III) | alpha-1,6-glucosidase (debranching enzyme) deficiency. fasting hypoglycemia, elevated liver glycogen stores |
| McArdle's disease (type V) | skeletal muscle glycogen phosphorylase deficiency. elevated muscle glycogen, causing painful muscle gramps & myoglobulinemia |
| Fabry's disease | alpha-galactosidase A deficiency, leading to ceramide trihexoside accumulation. peripheral neuropathy, angiokeratomas, cardio and renal disease |
| Gaucher's disease | most common lysosomal storage disease. beta-glucocerebrosidase deficiency, leading to glucocerebroside accumulation. hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages with 'tissue paper' appearance |
| Niemann-Pick disease | sphingomyelinase deficiency, with sphingomyelin accumulation. neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells |
| Tay-Sachs disease | hexosaminidase A deficiency, with GM2 ganglioside accumulation. neurodegeneration, developmental delay, cherry-red spot on macula, onion-skin lysosomes |
| Krabbe's disease | galactocerebrosidase deficiency, with galactocerebroside accumulation. peripheral neuropathy, developmental delay, optic atrophy, globoid cells |
| Metachromatic leukodystrophy | arylsulfate A deficiency, with cerebroside sulfate accumulation. demyelination with ataxia and dementia |
| Hurler's syndrome | alpha-L-iduronidase deficiency, with heparan sulfate and dermatan sulfate accumulation. developmental delay, gargoylism, airway obstruction, corneal clousing, hepatosplenomegaly |
| Hunter's syndrome | iduronate sulfatase deficiency, with heparan sulfate and dermatan sulfate accumulation. developmental delay, gargoylism, airway obstruction, aggressive behavior |
Combine with other sets
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