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25 Cards in this Set
- Front
- Back
the only 2 X-linked recessive lysosomal storage disease
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Fabry's & Hunters
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how are most lysosomal storage diseases inherited (all but Fabry's and Hunter)
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AR
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disease with ceramide trihexoside accumulation
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Fabry's
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enzyme deficiency in Fabry's
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alpha-galactosidase
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angiokeratomas, cardiac and renal involvement, painful neuropathy
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Fabry's
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disease with glucocerebrosides accumulation
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Gaucher's
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enzyme deficiency in Gaucher's
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beta-gluco- cerebrosidase
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enzyme deficiency in Krabbe's
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Galacto-cerebrosidase
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macrophages that look like crumpled tissue paper, hepatosplenomegaly, pancytopenia, severe bone and join pain
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Gaucher's
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progressive neurodegeneration, optic atrophy
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Krabbe's
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disease with Cerebroside sulfate accumulation
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Metachromatic leukodystrophy
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enzyme deficiency in metachromatic leukodystrophy
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arylsulfatase A
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Muscle wasting, dementia, ataxia
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metachromatic leukodystrophy
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disease with sphingomyelin accumulation
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Niemann-Pick
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enzyme deficiency in Niemann-Pick
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sphingomyelinase
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hepatosplenomegaly, cherry red macula, foam cells, progressive neurodegeneration
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Niemann-Pick
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disease with GM2 ganglioside accumulation
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Tay-Sachs
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enzyme deficiency in Tay-Sachs
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beta hexosaminidase A
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cherry-red spot in macula, progressive neurodegeneration, no hepatosplenomegaly, Ashkenazi jews
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Tay-Sachs
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disease with galactocerebroside accumulation
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Krabbe's
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Disease with dermatan and heparan sulfate accumilation
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hurler and hunters syndrome
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enzyme deficiency in hurlers syndrome
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alpha L iduronidase
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enzyme deficiency in hunters
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Iduronate sulfatase
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gargoylism, corneal clouding, hepatosplenomegaly, developmental delay
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Hurler syndrome
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gargoylism, hepatospenomegaly, developmental delay (Similar to hurlers but no corneal clouding)
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Hunter syndrome
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