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Hereditary fructose intolerance

Disease definition

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.

ORPHA:469

  • Synonym(s):
    • Hereditary fructose-1-phosphate aldolase deficiency
    • Hereditary fructosemia
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E74.1
  • OMIM: 229600
  • UMLS: C0016751
  • MeSH: D005633
  • GARD: 6622
  • MedDRA: 10019878

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