Lysosomal storage dz Flashcards

1
Q

Enzyme deficiency

Fabry

A

galactosidase

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2
Q

Enzyme deficiency

Gaucher

A

Glucocerebrosidase

beta glucosidase

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3
Q

Enzyme deficiency

Niemann pick

A

Sphingomyelinase

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4
Q

Enzyme deficiency

Tay-Sachs

A

hexosaminidase

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5
Q

Enzyme deficiency

Krabbe

A

Galactocerebrosidase

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6
Q

Enzyme deficiency

Metachromatic leukodystrophy

A

arylsulfatase

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7
Q

Enzyme deficiency

Hurler syndrome

A

alpha L iduronidase

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8
Q

Hunter syndrome

A

Iduronate sulfatase

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