Lysosomal Storage Diseases Flashcards
1
Q
Deficient enzyme in Gaucher Disease
A
Glucocerebrosidase
beta-glucosidase
2
Q
Deficient enzyme in Niemann-Pick Disease
A
Sphingomyelinase
3
Q
Deficient enzyme in Tay-Sachs Disease
A
Hexoaminidase A
4
Q
Deficient enzyme in Krabbe Disease
A
Galactocerebrosidase
5
Q
Deficient enzyme in Metachromatic Leukodystrophy
A
Arylsulfatase A
6
Q
Deficient enzyme in Hurler Syndrome
A
Alpha-L-iduronidase
7
Q
Deficient enzyme in Hunter Syndrome
A
Iduronate sulfatase
8
Q
Deficient enzyme in Fabry Disease
A
Alpha-galactosidase A