Autosomal Recessive Disorders / Lipid Storage Diseases Flashcards

1
Q

Tay- Sach’s Disease

A

Hexosaminidase A

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2
Q

Sandhoff Disease

A

Hexosaminidase A & B

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3
Q

Gaucher Disease

A

B-glucosidase / Glucosylceraminidase

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4
Q

Niemann Pick Syndrome

A

Spingomyelinase

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5
Q

Farber’s Disease

A

Ceraminidase

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6
Q

Fabry Disease

A

a-galactosidase

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7
Q

Krabbe Disease

A

B-galactosidase / Galactosylceraminidase

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8
Q

Metachromic
Leukodystrophy

A

Arylsulfatase

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