lysosomal storage dz Flashcards
1
Q
high GM2
A
tay sachs
2
Q
high ceramide trihexoside
A
fabry dz
3
Q
high glucocerebrosid
A
gaucher’s dz
4
Q
high sphingomyelin
A
niemann pick dz
5
Q
high galactocerebroside
A
krabbe dz
6
Q
high sulfatides
A
metachromatic leukodystrophy
7
Q
high heparin sulfate
A
hurlers syndrome and hunters syndrome
8
Q
what enzyme is dysfxnal in hurlers syndrome
A
alpha-L-iduronidase
9
Q
what enzyme is dysfxnal in hunters syndorme
A
iduronate sulfatase
10
Q
what enzyme is dysfxnal in tay sachs
A
hexosaminidase
11
Q
what enzyme is dysfxnal in fairy dz
A
alpha galactosidase
12
Q
what enzyme is dysfxnal in goucher’s dz
A
glucocerebrosidase
13
Q
what enzyme is dysfxnal in nieman pick dz
A
sphingomyelinase
14
Q
what enzyme is dysfxnal in krabbe dz
A
galactocerebrosidase
15
Q
what enzyme is dysfxnal in metachromatic leukodystrophy
A
arylsulfatase A
