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8 Cards in this Set
- Front
- Back
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Fabry's disease
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- a-galactosidase A deficiency
- accumulation of ceramide trihexoside - XR inheritance - peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease |
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Gaucher's disease *most common
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- B-glucocerebrosidase deficiency
- accumulation of glucocerebroside - AR - hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher cells (macrophages) |
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Niemann-Pick disease
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- spingomyelinase deficiency
- accumulation of sphingomyelin - AR inheritance - progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells |
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Tay-Sachs disease
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- hexosaminidase A deficiency
- accumulation of GM2 ganglioside - AR inheritance - progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly* |
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Krabbe's disease
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- galactocerebrosidase deficiency
- accumulation of galactocerebroside - AR inheritance - peripheral neuropathy, developmental delay, optic atrophy, globoid cells |
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Metachromatic leukodystrophy
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- arylsulfatase A deficiency
- accumulation of cerebroside sulfate - AR inheritance - central and peripheral demyelination with ataxia, dementia |
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Hurler's syndrome
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- a-L-iduronidase deficiency
- heparan sulfate, dermatan sulfate accumulation - AR inheritance - developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly |
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Hunter's syndrome
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- iduronate sulfatase deficiency
- heparan sulfate, dermatan sulfate accumulation - XR inheritance - mild Hurler's and aggressive behavior, no corneal clouding |
