Lipid Storage Diseases Flashcards

1
Q

Tay-Sachs

A

Defect in hexoaminidase A

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2
Q

Fabry’s Disease

A

Defect in a-galactosidase

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3
Q

Metachromatic leukodystrophy

A

Defect in arylsulfatase A

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4
Q

Karabbe’s Disease

A

Defect in B-galactosidase

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5
Q

Gaucher’s disease

A

Defect in B-glucosidase

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6
Q

Niemann-Pick

A

Defect in Sphingomyelinase

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7
Q

Farber’s Disease

A

Defect in Ceramidase

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