neurocutaneous disorders Flashcards
1
Q
fabry’s deficient enzyme
A
a-galactosidase A
2
Q
gaucher’s deficient enzyme
A
glucocrebrosidase
3
Q
niemann pick enzyme
A
sphingomyelinase
4
Q
tay sachs deficient enzyme
A
hexosaminidase A
5
Q
krabbe’s deficient enzyme
A
galactocerebrosidase
6
Q
metachromatic leukodystrophy enzyme
A
arylsulfatase A
7
Q
hurler’s enzyme
A
a-L iduronidase
8
Q
hunter’s enzyme
A
iduronate sulfatase
9
Q
fabry’s substrate
A
ceramide
trihexoside
10
Q
gaucher’s substrate
A
glucocerebroside
11
Q
tay sachs substrate
A
GM2 ganglioside
12
Q
Krabbe’s substrate
A
galactocerebroside
13
Q
metachromatic leukodystrophy substrate
A
cerebroside sulfate
14
Q
hurler’s substrate
A
heparan sulfate
dermatan sulfate
15
Q
hunter’s substrate
A
heparan sulfate dermatan sulfate
