4. Spingolipidoses Flashcards
1
Q
deficiency of
hexosaminidase A
A
Tay-sachs disease
2
Q
deficiency of
spingomyelinase
A
Nieman-Pick disease
3
Q
deficiency of
ß glucosidase
A
Gaucher disease
4
Q
deficiency of
α-galactosidase
A
fabry disease
5
Q
deficiency of
Arylsulfatase A
A
Metachromatic leukodystrophy
6
Q
deficiency of
ß-galactosidase
A
Krabbe disease
7
Q
deficiency of
ceramidase
A
Farber disease
8
Q
lipid accumulating
Farber disease
A
ceramide
9
Q
lipid accumulating
Krabbe
A
galactosylceramide
10
Q
lipid accumulating
metachromatic leukodystrophy
A
3-sulfogalactosylceramide
11
Q
lipid accumulating
fabry
A
globotriaosylceramide
12
Q
lipid accumulating
gaucher
A
glucosylceramide
13
Q
lipid accumulating
sphingomyelin
A
Niemann-Pick
14
Q
lipid accumulating
Tay-Sachs
A
GM2 ganglioside
15
Q
- NO HEPATOSPLENOMEGALY
- mental retardation
- cherry red spot on macula
A
Tay sachs
