Lysosomal storage diseases Flashcards
1
Q
deficient enzyme in Hurlers
A
alpha-L-Iduronidase
2
Q
deficient enzyme in Hunters
A
Iduronate sulfatase
3
Q
deficient enzyme in Tay sachs
A
beta-Hexosaminidase A
4
Q
accumulation in Hurlers and Hunters
A
dermatan sulfate and heparin sulfate
5
Q
hepatosplenomegaly and corneal clouding
A
Hurlers
6
Q
genetic inheritance of Hunters
A
X-linked recessive
7
Q
hepatosplenomegaly without corneal clouding
A
Hunters
8
Q
accumulation in Tay sachs
A
ganglioside GM2
9
Q
cherry red macula and onion shell inclusions
A
Tay sachs
10
Q
most common lysosomal storage disorder
A
Gauchers
11
Q
deficient enzyme in Gauchers
A
beta-glucosidase
12
Q
accumulation in gauchers
A
glucosyl ceramide (glucocerebroside)
13
Q
crumpled tissue paper appearance in cytoplasm
A
Gauchers
14
Q
genetic inheritance of Fabrys
A
X-linked recessive
15
Q
deficient enzyme in Fabrys
A
alpha-galactosidase
