Autosomal Recessive Disorders / Lipid Storage Diseases Flashcards
1
Q
Tay- Sach’s Disease
A
Hexosaminidase A
2
Q
Sandhoff Disease
A
Hexosaminidase A & B
3
Q
Gaucher Disease
A
B-glucosidase / Glucosylceraminidase
4
Q
Niemann Pick Syndrome
A
Spingomyelinase
5
Q
Farber’s Disease
A
Ceraminidase
6
Q
Fabry Disease
A
a-galactosidase
7
Q
Krabbe Disease
A
B-galactosidase / Galactosylceraminidase
8
Q
Metachromic
Leukodystrophy
A
Arylsulfatase