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USMLE Step 1 - Biochem

Disease (inheritance)Findings,- enzyme,substrate
Niemann-Pick (autosomal recessive) progressive neurodegeneration (mental retardation severe),hepatosplenomegaly,cherry-red spot (on macula),fatal in early life; sphingomyelinase; sphingomyelin
Gaucher's (autosomal recessive) hepatosplenomegaly,mental retardation,aseptic necrosis of femur,osteoporosis,bone crises,Gaucher's cells (macrophages),seen in Ashkenazi Jews; Beta-glucocerebrosidase; glucocerebroside
Krabbe's (autosomal recessive) peripheral neuropathy,developmental delay,severe mental retardation,optic atrophy (blindness),deafness,convulsions,paralysis (due to almost complete absence of myelin),fatal in early life; beta-galactosidase; galactocerebroside
Metachromatic Leukodystrophy (autosomal recessive) central & peripheral demyelination w/ ataxia,dementia,mental retardation,psychiatric probs,progressive paralysis; arylsulfatase A; cerebroside sulfate
Fabry's (X-linked recessive) peripheral neuropathy of hands/feet,angiokeratomas,cardiovascular/renal disease,reddish-purple rash; alpha-galactosidase A; ceramide trihexoside
Tay-Sachs (autosomal recessive) progressive neurodegeneration,developmental delay,cherry-red spot,lysozymes w/ onion skin,mental retardation,blindness, seen in Ashkenazi Jews; hexoaminidase A; GM2 ganglioside
Created by: jerrica_08