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6 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Fabry's disease
Deficient enzyme? |
alpha-galactosidase A
Accumulated substrate? |
Ceramide
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Gaucher's disease
Deficient enzyme? |
beta-glucocerebrosidase
Accumulated substrate? Findings? |
Glucocerebrosidase
Crumpled paper macrophages, hepatosplenomegaly |
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Niemann-Pick
Deficient enzyme? |
Sphingomyelinase
Accumulated substrate? Findings? |
Sphingomyelin
Foam cells, cherry-red spot, hepatosplenomegaly |
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Tay-Sachs disease
Deficient enzyme? |
Hexosaminidase A
Accumulated substrate? Findings? |
GM2 ganglioside
Neurodegeneration, cherry-red spot, NO hepatosplenomegaly |
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Hurler's syndrome
Deficient enzyme? |
alpha-L-iduronidase
Accumulated substrate? Findings? |
Heparan sulfate
Developmental delay, gargoylism, corneal clouding |
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Hunter's syndrome
Deficient enzyme? |
Iduronate sulfatase
Accumulated substrate? Findings? |
Heparan sulfate
Mild Hurler's, no corneal clouding |
