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acroparesthsia, anhydrosis, angiokeratomas, CV/renal disease
Fabry's disease; alpha-galactosidase A deficient; ceramide trihexoside accumulate
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macrophages look like crumpled tissue, hepatosplenomegaly, bone crisis, Jewish
Gaucher's disease; beta-glucocerebridase deficient; glucocerebroside accumulate
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progressive neurodegeneration, hepatospenomegaly, foam cells, cherry red macula, Jewish
Niemann-Pick disease; sphingomyelinase deficient; sphingomyelin accumulate
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progressive neurodegeneration, developmental delay, onion skinning lysosomes, cherry red macula, Jewish
Tay-Sachs disease; Hexosaminidase A deficient; GM2 ganglioside accumulate
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peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Krabbe's disease; Galactocerebrosidase deficient; Galactocerebroside accumulate
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central and peripheral demyelination with ataxia, dementia
Metachromatic leukodystrophy; Arylsulfatase A deficient; Cerebroside sulfate accumulate
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developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Hurler's Syndrome; alpha-L-iduronidase deficient; Heparan sulfate and dermatan sulfate accumulate
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developmental delay, gargoylism, airway obstruction, hepatosplenomegaly, aggressive behavior
Hunter's syndrome; Iduronate sulfatase deficient; Heparan sulfate and dermatan sulfate accumulate
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