Lysosomal Storage Dx Flashcards by Jessica Martin | Brainscape

Q

Fabry Disease: deficient enzyme

A

alpha-galactosidase A

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Q

Fabry Disease: accumulated substrate

A

ceramide trihexodase

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Q

Fabry Disease: inheritance

A

x-linked recessive

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Q

Gaucher Disease: deficient enzyme

A

glucocerebrosidase (beta-glucosidase)

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Q

Gaucher Disease: accumulated substrate

A

glucocerebroside

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Q

Gaucher Disease: inheritance

A

autosomal recessive

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Q

Niemann-Pick Disease: deficient enzyme

A

sphingomyelinase

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Q

Niemann-Pick Disease: accumulated substrate

A

sphingomyelin

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Q

Niemann-Pick Disease: inheritance

A

autosomal recessive

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Q

Tay-Sachs Disease: deficient enzyme

A

hexosaminidase A

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Q

Tay-Sachs Disease: accumulated substrate

A

GM2 ganglioside

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Q

Tay-Sachs Disease: inheritance

A

autosomal recessive

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Q

Krabbe Disease: deficient enzyme

A

galactocerebrosidase

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Q

Krabbe Disease: accuulated substrate

A

galactocerebroside

psychosine

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Q

Krabbe Disease: inheritance

A

autosomal recessive

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Q

Metachromatic leukodystrophy: deficient enzyme

A

arylsulfatase A

Q

Metachromatic luekodystrophy: accumulated substrate

A

cerebroside sulfate

Q

Metachromatic leukodystrophy: inheritance

A

autosomal recessive