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9 Cards in this Set
- Front
- Back
Niemann-Pick
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Sphingomyelin
Sphingomyelinase Cherry-red macula Hepatosplenomegaly Lymphadenopathy Fatal early in life Ashkenazi Jews Foamy histiocytes |
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Gaucher's
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Glucocerebroside
Glucocerebrosidase Hepatosplenomegaly Erosion of long bones Osteoporosis Aseptic necrosis of femur Ashkenazi Jews Gaucher's cells - macrophages look like crumpled tissue paper |
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Krabbe's
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Galactocerebroside
Galactocerebrosidase MR - severe Blindness, deafness, convulsions, paralysis Due to almost complete absence of myelin Optic atrophy Globoid cells Fatal early in life |
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Fabry's
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Ceramide trihexoside - globoside
Alpha-galactosidase No MR! X-linked! Angiokeratomas in lower extremities (mostly) Reddish-purple rash Kidney failure Heart failure |
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Metachromic dystrophy
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Sulfatides - cerebroside sulfate
Arylsulfatase MR Central and peripheral demyelination - ataxia Later onset psychiatric problems, dementia, and progressive paralysis |
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Tay-Sach's
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GM2 ganglioside
Hexosaminidase MR Cherry red macula, blindness Lysosomes with onion skin Ashkenazi Jews Death by age 3 |
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Hurler's
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Mucopolysaccharidosis
Deficient alpha-L sulfatase Accumulation of heparan sulfate and dermatan sulfate CORNEAL CLOUDING + MR Developmental delay/dwarfing, gargoylism, airway obstruction, hepatosplenomegaly, no deafness |
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Hunter's
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Mucopolysaccharidosis
X-linked Deficient iduronate sulfatase Accumulation of heparan sulfate and dermatan sulfate NO CORNEAL CLOUDING + MR Mild version of Hurler's plus aggressive behavior, deafness possible |
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Sheis's
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Mucopolysaccharidosis
Defective alpha-L iduronidase CORNEAL CLOUDING + NO MR Aortic valve disease, stiff joints |