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3 Cards in this Set
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Tay Sachs
Enzyme def? Accumulated substrate? Symptoms? |
Enzyme def: Hexosaminidase A
Accumulated substrate: Ganglioside GM2 Symptoms: Red macula spots blindness, psychomotor retardation death by 2y |
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Gaucher
Enzyme def? Accumulated substrate? Symptoms? |
Enzyme def: Glucocerbrosidase
Accumulated substrate: Glucocerebroside Symptoms: H/Smegaly, pancytopenia, bone erosion, CRUMPLED PAPER INCLUSIONS enzyme therapy useful |
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Nieman Pick
Enzyme def? Accumulated substrate? Symptoms? |
Enzyme def: Sphingomyelinase
Accumulated substrate: Sphimgomyelin Symptoms: Red macula spots, microcephaly, foamy macrophages, h/smegaly |
