USMLE Lysosomal/Glycogen

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Author:
Jastrzembski
ID:
138409
Filename:
USMLE Lysosomal/Glycogen
Updated:
2012-02-28 13:30:03
Tags:
Lysosoaml Storage Diseases Glycogen
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Description:
Lysosomal/Glycogen Storage Diseases
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  1. Glycogen Storage Diseases Mnemonic?
    • Very Poor Carbohydrate Metabolism!
    • Von Gierke's (G-6-Phosphatase Deficiency)
    • Pompe's Disease (Lysosomal alpha-1,-4 glucosidase deficiency)
    • Cori's Disease (Debranching alpha-1-6-glucosidase deficiency)
    • McArdle's (Skeletal muscle glycogen phosphorylase deficiency)
  2. Von Gierke's Disease
    • Very Poor Carbohydrate Metabolism
    • Glycogen Storage Disease
    • Glucose-6-Phosphatase Deficiency.
    • Severe fasting hypoglycemia.
    • Hepatomegaly because you can't get glucose out of liver.
  3. Pompe's Disease
    • Very Poor Carbohydrate Metabolism
    • Lysosomal alpha-1-4-glucosidase deficiency

    Cardiomegaly and systemic finding leads to early death.

    Pompe's trashes the pump!
  4. Cori's Disease
    • Very Poor Carbohydrate Metabolism
    • Glycogen Storage Disease

    alpha-1-6-glucosidase debranching enzyme. Basically a milder form of Von Gierke's disease, with fasting hypoglycemia. But gluconeogenesis is intact.
  5. McArdle's Disease
    • Type V Glycogen Storage Disease
    • Skeletam Muscle Glycogen Phosphorylase.
    • Cannot break down Glycogen in Skeletal muscle.
    • Leads to painful muscle cramps and myoglobinuria with strenous exercise. No lactic acid in muscle (because don't have any glucose to break down!).
  6. Tay-Sachs: Deficient Enzyme, Accumulated Substance, Findings
    • Deficiency: Hexosaminidase A
    • Sachs but a Hex on Polio
    • Accumulated Substance: GM2 gangliosides
    • Findings: Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin (whorled membranes). Unlike Niemann-Pick, no hepatospleomegaly.
    • Autosomal Recessive
  7. Niemann-Pick Disease: Deficient Enzyme, Accumulated Substance, Findings
    • Deficient Enzyme: Sphingomyelinase
    • Accumulated Substance: Sphingomyelins
    • Findings: Niemann-Pick hings on hepatosplenomegaly.
    • other findings include: cherry-red spot on macula, foam cells (macrophages) progressive neurodegeneration, mental retardation, microcephaly.
    • Autosomal Recessive
  8. Gaucher Disease: Deficient Enzyme, Accumulated Substance, Findings
    • Deficient Enzyme: Beta-glucocerebrosidase
    • Accumulation: Glucerobrosides
    • Autosomal Recessive
    • Findings: Hepatosplenomegaly, Bone Involvement (Gaucher makes you grouchy), pain and fracture (asceptic necrosis of femor.
    • Gaucher cells are enlarged macrophages with fibrillary cytoplasm (macrophages that look like crumpled tissue paper).
  9. Fabry Disease: Deficient Enzyme, Accumulated Substance, Findings
    • Deficient enzyme: alpha-galactosidase A
    • Accumualted Substance: Ceramide trihexoside
    • X-linked Recessive
    • X-linked think milk (alpha-galactosidase deficiency)
    • Findings: Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
  10. Krabbe's Disease: Deficient Enzyme, Accumulated Substance, Findings
    • Deficient Enzyme: Galactocerebrosidase
    • Accumulated Substance: Galactocerebroside
    • Autosomal Recessive
    • Peripheral Neuropathy, developmental delay, optic atrophy, globoid cells.

    Unlike Fabry, it has optic involvement and developmental delay. Not having eyes and being slow development makes you Krabbe!
  11. Metachromatic Leukodystrophy: Deficient Enzyme, Accumulated Substance, Findings
    • Deficient Enzyme: Arylsulfatase A
    • Accumulated Substance: Cerebroside sulfate
    • Autusomal Recessive

    Central and peripheral demyelination with ataxia and dementia.
  12. Mucopolysaccharidoses?
    • Don't have lysosomal enzymes to break down glycosaminoglycan's!
    • Hurler's syndrome,
    • Hunter's Disease
  13. Hurler's Syndrome: Deficient Enzyme, Accumulated Substance, Findings
    • Deficient: alpha-L-iduronidase
    • Accumulated: Glycosaminoglycans, Heparan and dermatan sulfate
    • Autosomal recessive.

    Developmental delay, gargoylism (coarse facial features, Hurler), airway obstruction, corneal clouding, hepatosplenomegaly.
  14. Hunter's Disease: Deficient Enzyme, Accumulated Substance, Findings
    • Deficient enzyme: iduronate sulfatase.
    • Accumulating: Heparan and dermatan sulfate (glycosaminoglycans)
    • X-linked recessive.

    Hunter's see clearly (no corneal clouding) and aim for the X (x-linked recessive).

    They have mild Hurler's with agressive behavior!
  15. What are the lysosomal storage disease with greater incidence in Ashkenazi Jews?
    Tay-Sachs, Niemann-Pick, and some forms of Gaucher's.

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