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