Lysosomal storage diseases Flashcards
1
Q
Fabry deficiency
A
a-galactosidase A
2
Q
Fabry accumulation
A
Ceramide trihexoside
3
Q
Fabry symptoms
A
Peripheral neuropathy
Angiokeratoma
Cardio/renal disease
4
Q
Gaucher deficiency
A
Glucocerebrosidase
5
Q
Gaucher accumulation
A
Glucocerebroside
6
Q
Gaucher symptoms
A
HSM
Pancytopenia
Bone issues–avascular necrosis of the femur, osteoporosis, bone crises
Gaucher cells–lipid-laden macrophages with crumpled tissue paper
7
Q
Niemann pick deficiency
A
Sphingomyelinase
8
Q
Niemann pick accumulation
A
Sphingomyelin
9
Q
Niemann pick symptoms
A
CNS
HSM
Foam cells
10
Q
Tay Sachs deficiency
A
Hexosaminidase A
11
Q
Tay Sachs accumulation
A
GM2
12
Q
Tay Sachs symptoms
A
CNS
Onion-skinned lysosomes
13
Q
Krabbe deficiency
A
Galactocerebrosidase
14
Q
Krabbe buildup
A
Galactocerebroside
15
Q
Krabbe symptoms
A
Peripheral neuropathy
Optic atrophy
Globoid cells
