Lysosomal storage diseases Flashcards

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1
Q

Fabry deficient enzyme

A

alpha-galactosidase A

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2
Q

Gaucher deficient enzyme

A

glucocerebrosidase (aka B-glucosidase)

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3
Q

Niemann-Pick deficient enzyme

A

sphingomyelinase

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4
Q

Tay-Sachs deficient enzyme

A

hexosaminidase A

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5
Q

Krabbe deficient enzyme

A

Galactocerebrosidase

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6
Q

Metachromatic leukodystrophy deficient enzyme

A

Arylsulfatase A

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7
Q

Hurler deficient enzyme

A

alpha-L-iduronidase

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8
Q

Hunter deficient enzyme

A

Iduronate sulfatase

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