Lysosomal Storage Diseases Flashcards
1
Q
deficiency in alpha-galactosidase A?
A
Fabry’s
2
Q
All of these are autosomal recessive except which 2?
A
Fabry’s and Hunter’s (X-linked recessive)
3
Q
deficiency in GLUCOcerebrosidase
A
Gaucher’s
4
Q
deficiency in Sphingomyelinase
A
Niemann-Pick’s
5
Q
deficiency in Heximinidase A
A
Tay-Sach’s
6
Q
deficiency in GALACTOcerebrosidase
A
Krabbe’s
7
Q
deficiency in Arylsulfatase A
A
Metachromatic Leukodystrophy
8
Q
deficiency in alpha-L-iduronidase
A
Hurler’s
9
Q
deficiency in Iduronate sulfatase
A
Hunter’s
10
Q
accumulation of ceramide trihexoside
A
Fabry’s
11
Q
accumulation of glucocerebroside
A
Gaucher’s
12
Q
accumulation of sphyingomyelin
A
Niemann-Pick
13
Q
accumulation of ganglioside GM2
A
Tay-Sach’s
14
Q
accumulation of galactocerebroside
A
Krabbe’s
15
Q
accumulation of Cerebroside Sulfate
A
Metachromatic leukodystrophy
