Storage Diseases

Card Set Information

Author:
Anonymous
ID:
138258
Filename:
Storage Diseases
Updated:
2012-02-27 22:46:34
Tags:
USMLE
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Description:
Glycogen and Lysosomal Storage Diseases
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  1. Mnemonic for Glycogen Storage Diseases
    • Very Poor Carbohydrate Metabolism (VPCM)
    • Von Gierke's = G6Pase deficiency
    • Pompe's = Lysosomal alpha-1-4-glucosidase (acid maltase) deficiency
    • Cori's Disease = Debranching enzyme (alpha-1-6-glucosidase) deficiency
    • McArdle's disease = Skeletal muscle glycogen phosphorylase
  2. Von Gierke's Disease
    • Type 1 Glycogen Storage Disease
    • Glucose 6 Phosphatase Deficiency
    • Causes severe fasting hypoglycemia

    Very poor carbohydrate metabolism.
  3. Pompe's Disease
    • Lysosomal alpha-1-4-glucosidase (acid maltase) deficiency
    • Cardiomegaly and trashes the heart, liver, and muscles.
    • Pompe's trashes the Pump! Early Death.

    Very Poor Carbohydrate Metabolism
  4. Cori's Disease
    • Alpha 1-6 glucosidase deficiency (debranching enzyme)
    • Gluconeogenesis is intact, but some fasting hypoglycemia. Milder form of Type I.

    Very Poor Carbohydrate Metabolism
  5. McArdle's disease
    • Very Poor Carbohydrate Metabolism
    • Skeletal muscle glycogen phosphorylase deficiency.

    Increased glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise.
  6. Tay-Sachs Disease
    • Hexosaminidate A deficiency, Autosomal Recessive
    • Sachs put a hex on Polio!
    • Increase in GM2 gangliosides. Whorled membranes in lysosomes (lysosomes with onion skin). No hepatosplenomegaly

    Symptoms: Death before 2, psychomotor retardation, cherry red spots on macula
  7. Niemann-Pick
    • Sphingomylenase Deficiency, Autosomal Recessive.
    • Sphingomyelin amounts increase.

    • Niemann-Pick Hinges on Hepatosplenomegaly
    • Syptoms: Hepatosplenomegaly, Microcephaly, Mental retardation, Neonatal Onset, Red spots on macula too (just like Tay-Sachs)
  8. Gaucher disease
    • Autosomal Recessive, Decreased glucocerebrosidase, Increased glucocerobrosidase.
    • Most common lysosomal storage disease.

    Gaucher makes you grouchy because it has bone fractures and bone pain, avascular necrosis of femur.

    Gaucher cells are macrophages that look like curmpled tissue paper. They are enlarged macrophages with fibrillary cytoplasm.

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