Glycogen Storage Diseases

Card Set Information

Author:
jaguavai
ID:
114904
Filename:
Glycogen Storage Diseases
Updated:
2011-11-06 15:49:29
Tags:
Pharm 412 Roseman 2014
Folders:

Description:
Storage diseases and their enzymes
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  1. Von Gierke's disease effected enzyme
    glucose-6-phosphatase
  2. Von Gierke's disease clinical features
    • Massive enlargement of liver
    • Failure to thrive
    • Severe hypoglycemia
    • Increased amount of glycogen
  3. Cori's disease effected enzyme
    Debranching enzyme
  4. Cori's disease clinical features
    Same as Von Gierke's but milder
  5. Anderson's disease affected enzyme
    Branching enzyme
  6. Anderson's disease clinical features
    Liver cirrhosis, death by age 2
  7. McArdle's disease affected enzyme
    Phosphorylase
  8. McArdle's disease clinical features
    • Severe muscle cramps during exercise
    • Otherwise normal
  9. Hers' disease enzyme
    phosphorylase
  10. Hers' disease clinical features
    Like Von Gierke's but milder course

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