Lipid Storage Diseases Flashcards
1
Q
Tay-Sachs
A
Defect in hexoaminidase A
2
Q
Fabry’s Disease
A
Defect in a-galactosidase
3
Q
Metachromatic leukodystrophy
A
Defect in arylsulfatase A
4
Q
Karabbe’s Disease
A
Defect in B-galactosidase
5
Q
Gaucher’s disease
A
Defect in B-glucosidase
6
Q
Niemann-Pick
A
Defect in Sphingomyelinase
7
Q
Farber’s Disease
A
Defect in Ceramidase