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6 Cards in this Set
- Front
- Back
- 3rd side (hint)
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peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease
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Fabry's disease (XR)
deficient: alpha galactosidase A |
accumulated substate: ceramide trihexose
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hepatosplenomegaly, aseptic necrosis of femur, bone crisis.
*macrophages that look like crumpled paper |
Gaucher's disease
deficient: beta-glucocerebroside |
accumulated: glucocerebroside
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progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells
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Niemann Pick disease
deficient: sphingomyelinase |
accumulated: sphingomyelin
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progressive neurodegeneration, cherry red spot on macula, lysosomes with onion skin
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Tay Sachs disease
deficient: hexosaminidase A |
accumulated: GM2 ganglioside
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peripheral neuropathy, developmental delay, optic atrophy*, globoid cells
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Krabbe's disease
deficient: galactocerebrosidase |
accumulated: galactocerebroside
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central and peripheral demyelination with ataxia, dementia
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metachromic leukodystrophy
deficient: arylsulfatase A |
accumulated: cereboside sulfate
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