Metabolism

Hereditary Fructose Intolerance

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Hereditary Fructose Intolerance

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