Endocrinology Book

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Inborn Error of Small Molecule Metabolism

Aka: Inborn Error of Small Molecule Metabolism
  1. See Also
    1. Inborn Errors of Metabolism
  2. 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

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