USMLE Lysosomal Storage Diseases
What is the deficient enzyme in Fabry's disease?(Ans- alpha-galactosidase A
What is the accumulated substrate and inheritance in Fabry's disease?(Ans- ceramide trihexoside and XR
What are the findings in fabry's disease?(Ans- peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular /renal disease
What is the deficient enzyme in Gaucher's disease?(Ans- Glucocerebrosidase
What is the accumulated substrate and inheritance in Gaucher's disease?(Ans- glucocerebroside and AR
What are the findings in Gaucher's disease?(Ans- hepatosplenomegaly, aseptic necrosis of femur, bone crises, gaucher's cells(macrophages that look like crumpled tissue paper)
What is the deficient enzyme in niemann-pick disease?(Ans- sphingomyelinase
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