LysosomalStorageDisease.txt

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Author:
Anonymous
ID:
124633
Filename:
LysosomalStorageDisease.txt
Updated:
2011-12-20 13:07:28
Tags:
lysosomal storage diseases
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Description:
Using symptoms given, name the disease, name the enzyme that is deficient, and name the substrate that accumulates.
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  1. acroparesthsia, anhydrosis, angiokeratomas, CV/renal disease
    Fabry's disease; alpha-galactosidase A deficient; ceramide trihexoside accumulate
  2. macrophages look like crumpled tissue, hepatosplenomegaly, bone crisis, Jewish
    Gaucher's disease; beta-glucocerebridase deficient; glucocerebroside accumulate
  3. progressive neurodegeneration, hepatospenomegaly, foam cells, cherry red macula, Jewish
    Niemann-Pick disease; sphingomyelinase deficient; sphingomyelin accumulate
  4. progressive neurodegeneration, developmental delay, onion skinning lysosomes, cherry red macula, Jewish
    Tay-Sachs disease; Hexosaminidase A deficient; GM2 ganglioside accumulate
  5. peripheral neuropathy, developmental delay, optic atrophy, globoid cells
    Krabbe's disease; Galactocerebrosidase deficient; Galactocerebroside accumulate
  6. central and peripheral demyelination with ataxia, dementia
    Metachromatic leukodystrophy; Arylsulfatase A deficient; Cerebroside sulfate accumulate
  7. developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
    Hurler's Syndrome; alpha-L-iduronidase deficient; Heparan sulfate and dermatan sulfate accumulate
  8. developmental delay, gargoylism, airway obstruction, hepatosplenomegaly, aggressive behavior
    Hunter's syndrome; Iduronate sulfatase deficient; Heparan sulfate and dermatan sulfate accumulate

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