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Glycogen Storage Diseases

Glycogen Storage Diseases. Type I. Name? . VON GIERKE’S DISEASE. Severe fasting hypoglycemia, way increased liver glycogen, increased blood lactate, hepatomegaly Glucose-6-Phosphatase (If you don’t dephosphorylate glucose, cells cant release it!). Symptoms? Enzyme Def?. Type V. Name? .

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Glycogen Storage Diseases

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  1. Glycogen Storage Diseases

  2. Type I Name? VON GIERKE’S DISEASE Severe fasting hypoglycemia, way increased liver glycogen, increased blood lactate, hepatomegaly Glucose-6-Phosphatase (If you don’t dephosphorylate glucose, cells cant release it!) • Symptoms? • Enzyme Def?

  3. Type V Name? McARDLE’S DISEASE Increased muscle glycogen, but can’t break it down! Severe muscle cramps (decreased ATP), myoglobinuria. Skeletal Muscle glycogen phosphorylase • Symptoms? • Enzyme Def?

  4. Type 0 Name? N/A Hypoglycemia, increased ketones, decreased growth, early death Liver glycogen synthase • Symptoms? • Enzyme Def?

  5. Type IV Name? ANDERSEN’S DISEASE Cirrhosis, Liver Failure, Ascites Branching Enzyme • Symptoms? • Enzyme Def?

  6. Type II Name? POMPE’S DISEASE Cardiomegaly, liver, muscle probs. Lysosomal alpha 1,4 glucosidase (acid maltase) • Symptoms? • Enzyme Def?

  7. Type VI Name? HER SYNROME Hepatomegaly, mild hypoglycemia. Liver phosphorylase Good prognosis! • Symptoms? • Enzyme Def?

  8. Type X Name? N/A hepatomegaly pKa liver • Symptoms? • Enzyme Def?

  9. Type IX Name? N/A Hepatomegaly, mild hypoglycemia Phosphorylase kinase • Symptoms? • Enzyme Def?

  10. Type VII Name? TAURI SYNDROME Symptoms similar to McArdle’s: muscle cramps and myoglobinuria Phosphofructokinase 1 (no conversion of fructose-6-P to fructose 1,6, P for glycolysis. • Symptoms? • Enzyme Def?

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