Lysosomal storage diseases

Card Set Information

Author:
manjinder
ID:
150832
Filename:
Lysosomal storage diseases
Updated:
2012-04-28 23:47:10
Tags:
Biochem
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Description:
Lysosomal diseases
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  1. Fabry's disease
    XR
    • alpha-galactosidase A
    • Ceramide trihexoside
    • Peripheral neuropathy of hands/feet
    • angiokeratomas
    • cardiovascular/renal disease
  2. Gacher's diseae
    AR
    most common
    • Glucocerebrosidase
    • Glucocerebroside
    • macrophages that look like crumpled tissue paper
    • hepatosplenomegaly
    • aseptic necrosis of femur
    • bone crises
  3. Niemann-Pick disease
    AR
    • Sphingomyelinase
    • Sphingomyelin
    • Foam cells
    • progressive neurodegeneration
    • hepatosplenomegaly
    • cherry-red spot on macula
  4. Tay-Sachs disease
    AR
    • Hexosaminidase A
    • GM2 ganglioside
    • progressive neurodegeneration
    • developmental delay
    • cherry-red spot on macula
    • lysosomes with onion skin
    • no hepatoslenomegaly
  5. Krabbe's disease
    AR
    • Galactocerebrosidase
    • galactocerebroside
    • peripheral neuropathy
    • developmental delay
    • optic atrophy
    • globoid cell
  6. Metachromatic leukodystrophy
    • Arylsulfatase A
    • cerebroside sulfate
    • central and peripheral demyelinaton with ataxia, dementia due to buildup of sulfatides leading to impaired production of myelin sheath
  7. Hurler's syndrome
    AR
    • alpha-L-iduronidase
    • Heparan sulfate, dermatan sulfate
    • developmental delay, gargoylism (abnormalities in development of skeletal cartilage and bone and mental retardation),
    • airway obstruction,
    • corneal clouding,
    • hepatosplenomegaly
  8. Hunter's syndrome
    XR
    • iduronate sulfatase
    • heparan sulfate, dermatan sulfate
    • mild Hurler's + aggressive behavior
    • no corneal clouding

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