Disorders of Energy Metabolism

Aka: Disorders of Energy Metabolism, Energy Metabolism Disorders, Glycogen Storage Disease, Disorder of Carbohydrate Metabolism, Lipid Metabolism Disorders

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II. Types

  1. Oxidation defects
  2. Disorders of lipid utilization, Fatty Acid mobilization and metabolism
    1. Medium-chain-acyl-CoA Dehydrogenase Deficiency
    2. Carnitine palmityltransferase deficiency (deficiency of the mitochondrial translocation)
  3. Disorders of Gluconeogenesis and Glycolysis
    1. Pyruvate Dehydrogenase Deficiency
  4. Respiratory Chain Disorders (associated with Lactic Acidosis)
  5. Glycogen Storage Diseases
    1. Type 1: von Gierke's Disease
    2. Type 2: Pompe's Disease
    3. Type 3: Forbes Disease
    4. Type 4: Andersen's Disease
    5. Type 5: McArdle's Disease
    6. Type 6: Hers Disease
    7. Type 7: Tarui's Disease

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