SPHINGOLIPODOSES: ENZYME RELATED DEFICIENCIES Flashcards
1
Q
β-galactosidase 1 deficiency
A
GANGLIOSIDOSIS
2
Q
GM2 ganglioside
A
TAY-SACHS DISEASE
3
Q
α-galactosidase deficiency
A
FABRY DISEASE
4
Q
β-Hexosaminidase A (β-subunit) and B deficiency
A
SANDHOFF DISEASE
5
Q
Galactocerebroside, psychosine
A
KRABBE DISEASE (Globoid cell leukodystrophy)
6
Q
Glucocerebrosidase (β- glucosidase) deficiency
A
GAUCHER DISEASE
7
Q
Ceramidase deficiency
A
FARBER DISEASE
8
Q
Cerebroside sulfate
A
METACHROMATIC LEUKODYSTROPHY
9
Q
sphingomyelinase deficiency
A
NIEMANN-PICK DISEASE
10
Q
Globoside (Ceramide trihexoside)
A
FABRY DISEASE
11
Q
Gangliosides (GM1), keratin sulphate
A
GANGLIOSIDOSIS
12
Q
β-Hexosaminidase A (α-subunit) deficiency
A
TAY-SACHS DISEASE
13
Q
Glucocerebroside
A
GAUCHER DISEASE
14
Q
GM2 and globosides
A
SANDHOFF DISEASE
15
Q
β-Galactocerebrosidase deficiency
A
KRABBE DISEASE (Globoid cell leukodystrophy)
