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Enzyme Deficiencies
USMLE 1 Enzyme def.
14
Medical
Graduate
10/29/2012

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Cards

Term
Maple Syrup urine disease
Definition
alpha ketoacid dehydrogenase
Term
Homocystinuria
Definition
cystathionine synthase deficiency
homocysteine methyltransferase
Term
Von Gierke's
Definition
glucose-6-phosphatase
Term
Pompe
Definition
Lysosomal alpha-1,4-glucosidase (acid maltase)
Term
Cori
Definition
Debranching enzyme
Term
McArdle
Definition
glycogen phosphorylase
Term
Fabry's
Definition
alpha-galactosidase A
Term
Gaucher's
Definition
glucocerebrosidase
Term
Niemann Pick
Definition
sphingomyelinase
Term
Tay-Sachs
Definition
Hexosaminidase A
Term
Krabbe's disease
Definition
galactocerbrosidase
Term
Metachromatic leukodystrophy
Definition
Arylsulfatase A
Term
Hurler's
Definition
alpha-L-iduronidase
Term
Hunter's
Definition
Iduronidate sulfatase
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