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6 Cards in this Set
- Front
- Back
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Hurler's Disease (MPS I)
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deficiency in a-L-iduronidase
accumulation of dematan heparan sulphate characterized by depressed nasal birdge, widespread teeth death before age 10 inability to break down GAGs |
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Hunter's (MPS II)
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iduronate sulphatase deficiency
cant breakdown GAGs accumulation of dermatan sulphate, heparan sulphate less severe than I deafness and hepatosplenomegaly death in teenage years |
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Niemann-Pick
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sphingomyelinase deficiency, accumulation of sphingomyelin, cholesterol, glycosphingolipids
cherry red spot diag: sphingomyelinase reduced activity type A: first 6 months type B: later in childhood hepatosplenomegaly, worse early adulthood degeneration of liver/lung tissue CHERRY RED SPOT |
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Tay Sach's
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hexoamindase A deficiency, accumulation of GM2 gangliosides, Ashkenazi Jews
autosomal recessive death 10-15 yrs of age neurodegenerative, macrocephaly, loss of motor skills CHERRY RED SPOT |
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Fabry
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a-galactosidase def, accum of galactosylceramide
x-linked, difficult to diagnose, pain tingling reddish purple skin, lower abdomen, hypohidrosis |
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Gauchers
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B-glucosidase gene, glycosylceramide accumulation
less common form of ashkenazi jew disease normal life, hepatosplenomegaly in adulthood characteristic pigmentation |
