Lysosomal storage diseases Flashcards
1
Q
a-L-iduronidase
A
Hurler’s
1
Q
Dermatan sulfate
A
Hurler’s, Hunter’s
1
Q
Peripheral neuropathy, angiokeratoma, cardio/renal disease
A
Fabry’s
2
Q
Cerebroside sulfate
A
Metachromatic leukodystrophy
3
Q
Arylsulfatase A
A
Metachromatic leukodystrophy
3
Q
coarse facial features, corneal clouding, joint symptoms, enzymes in serum, fatal in childhood
A
I-cell disease
4
Q
hexosaminidase A
A
Tay Sachs
5
Q
mannose-6-phosphate
A
I-cell disease
6
Q
ceramide trihexoside
A
Fabry’s
6
Q
Neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
A
Niemann Pick
8
Q
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
A
Hurler’s
10
Q
Peripheral neuropathy, optic atrophy, globoid cells
A
Krabbe’s
12
Q
Heparan sulfate
A
Hurler’s, Hunter’s
13
Q
glucocerebrosidase
A
Gaucher’s
14
Q
GM2 ganglioside
A
Tay Sachs
