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27 Cards in this Set
- Front
- Back
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which 2 lysosomal storage diseases are X linked Recessive
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Hunter's, Fabry's
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accumulates ceramide trihexoside
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Fabry's
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missing a galactosidase A
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Fabry's
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storage disease w/ peripheral neuropathy, angiokeratomas, CV + renal disease
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Fabry's
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accumulates glucocerebroside
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Gaucher's
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missing beta glucocerebrosidase
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Gaucher's
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storage disease w/ hepatosplenomegaly, necrosis of femur, bone crisis
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Gaucher's
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crumpled tissue paper macrophages
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Gaucher's
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accumulates sphingomyelin
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Niemann Pick
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missing sphingomyelinase
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Niemann Pick
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storage disease w/ progressive neurodegneration, hepatosplenomegaly, cherry red spot on macula, foam cells
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Niemann Pick
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accumulates GM2 ganglioside
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Tay Sachs
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missing hexosaminidase A
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Tay Sachs
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storage disease w/ progressive neurodegneration, cherry red spot on macula, lysosomes w/ onion skin
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Tay Sachs
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accumulates galactocerebroside
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Krabbe's
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missing galactocerebrosidase
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Krabbe's
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storage disease w/ peripheral neuropathy, optic atrophy, developmental delay, globoid cells
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Krabbe's
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accumulates cerebroside sulfate
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Metachromatic leukodystrophy
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missing arylsulfatase A
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Metachromatic leukodystrophy
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storage disease w/ central + peripheral demyelination w/ ataxia, dementia
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Metachromatic leukodystrophy
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accumulates heparan sulfate, dermatan sulfate
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Hurler's, Hunter's
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missing α L iduronidase
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Hurler's
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missing Iduronate sulfatase
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Hunter's
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storage disease w/ corneal clouding, gargoylism, developmental delay, hepatosplenomegaly
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Hurler's
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Hunter's is like Hurler's but without
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corneal clouding
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which storage diseases have increased incidence in Ashkenazi Jews?
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Tay Sachs, Neimann Pick, some forms of Gaucher's
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lysosomal storage diseases assoc w/ early death (by age 3)
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Tay Sachs, Neimann Pick, Krabbe's
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