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6 Cards in this Set
- Front
- Back
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Fabry's Disease
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alpha-galactosidease A deficiency (XLR)
Ceramide trihexoside buildup Neuropathic limb pain, angiokeratomas, telangiectasias, renal failure, thromboembolic state |
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Krabbe's disease
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galactosylceramide/galactoside deficiency (AR)
galactocerebroside buildup Progressive CNS degeneration, optic atrophy, spasticity |
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Gaucher's disease
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glucocerebrosidease deficiency (AR)
Glucocerebrosidease buildup Anemia, thrombocytopenia |
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Nieman Pick disease
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sphingomyelinease deficiency (AR)
sphingomyelin buildup cherry-red spot, HSM |
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Tay-Sachs disease
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Hex A deficiency
GM2 accumulation Normal until 3-6 months, then regression of development, exaggerated startle response, cherry-red spot, NO HSM |
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Metachromatic leukodystrophy
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Arylsulfatase A deficiency (AR)
sulfatide accumulation Progressive ataxia and dementia |
