Lysosomal storage diseases Flashcards
1
Q
Fabry deficient enzyme
A
alpha-galactosidase A
2
Q
Gaucher deficient enzyme
A
glucocerebrosidase (aka B-glucosidase)
3
Q
Niemann-Pick deficient enzyme
A
sphingomyelinase
4
Q
Tay-Sachs deficient enzyme
A
hexosaminidase A
5
Q
Krabbe deficient enzyme
A
Galactocerebrosidase
6
Q
Metachromatic leukodystrophy deficient enzyme
A
Arylsulfatase A
7
Q
Hurler deficient enzyme
A
alpha-L-iduronidase
8
Q
Hunter deficient enzyme
A
Iduronate sulfatase