Endocrinology Book

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Hereditary Fructose Intolerance

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  1. See Also
    1. Inborn Errors of Metabolism
    2. Inborn Error of Small Molecule Metabolism
  2. Pathophysiology
    1. Intolerance to fructose or sucrose
  3. Symptoms (follows sucrose or fructose exposure)
    1. Vomiting
    2. Hypoglycemia
    3. Seizures
    4. Coma
    5. Hepatomegaly (see Hepatomegaly in Newborns)
    6. Jaundice (Direct Hyperbilirubinemia)
  4. Labs
    1. Hepatic fructose-1-phosphatase aldolase activity
  5. Management
    1. Fructose and sucrose eliminated from diet

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