Lysosomal storage diseases and other inherited metabolic disorders with their deficient enzyme and accumulated substrate.
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- What enzyme is deficient in Gaucher disease?
- Glucocerebrosidase (beta-glucosidase)
- What substance accumulates in Gaucher disease?
- Glucocerebroside
- What is the classic microscopic finding in Gaucher disease?
- Gaucher cells, macrophages with a crumpled tissue paper appearance
- What enzyme is deficient in Tay-Sachs disease?
- Hexosaminidase A
- What substance accumulates in Tay-Sachs disease?
- GM2 ganglioside
- What clinical feature distinguishes Tay-Sachs disease from Niemann-Pick disease?
- Tay-Sachs disease has no hepatosplenomegaly
- What enzyme is deficient in Niemann-Pick disease?
- Sphingomyelinase
- What substance accumulates in Niemann-Pick disease?
- Sphingomyelin
- What eye finding is shared by Tay-Sachs disease and Niemann-Pick disease?
- A cherry-red spot on the macula
- What enzyme is deficient in Fabry disease?
- Alpha-galactosidase A
- What substance accumulates in Fabry disease?
- Globotriaosylceramide (ceramide trihexoside)
- What is the inheritance pattern of Fabry disease?
- X-linked recessive
- What is the classic skin finding in Fabry disease?
- Angiokeratomas
- What enzyme is deficient in Krabbe disease?
- Galactocerebrosidase
- What substance accumulates in Krabbe disease?
- Galactocerebroside