Metabolism

Inborn Error of Small Molecule Metabolism

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Inborn Error of Small Molecule Metabolism

  • Types
  1. Organic acid disorders
    1. Methylmalonic acidemia
    2. Propionic acidemia
    3. Isovaleric acidemia
    4. Glutaric Acidemia Type I
    5. Beta-Ketothiolase deficiency
    6. 3-Methylcrotonyl-CoA Carboxylase Deficiency
    7. 3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency
  2. Carbohydrate metabolism defects
    1. Galactosemia
    2. Hereditary Fructose Intolerance
    3. See Glycogen Storage Disease
  3. Amino acid metabolism and Urea Cycle defects
    1. Phenylketonuria
    2. Maple syrup urine disease
    3. Tyrosinemia
    4. Tryptophanuria
    5. Hyperornithinemia
    6. Beta-alaninemia
    7. Homocystinuria
    8. Methionine malabsorption
    9. Citrullinemia
    10. Arginase Deficiency