Glycogen Storage Diseases.txt

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Author:
mthoma98
ID:
86494
Filename:
Glycogen Storage Diseases.txt
Updated:
2011-05-24 23:03:41
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  1. Von Gierke's Disease
    • Type I
    • lactic acidosis, hyperuricemia (gout), hyperlipidemia
    • hepatosplenomegaly, enlarged kidneys
    • increased glycogen in liver, severe fasting hypoglycemia
  2. Pompe's Disease
    • Type II
    • diaphragm weakness, respiratory failure
  3. Cori's Disease
    • Type III
    • hepatosplenomegaly, hypoglycemia, hyperlipidemia
    • normal kidneys, lactic acid, and uric acid
  4. McArdle's Disease
    • Type V
    • Painful muscle cramps, myoglobinuria
  5. Beckwith-Wiedemann syndrome
    • Macrosomia, visceromegaly
    • Omphalocele
    • Macroglossia
    • Hypoglycemia, Hyperinsulinemia
  6. Galactosemia
    • Few weeks after start breast feeding or formula
    • Liver failure
    • N/V, acidosis
    • glycosuria

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