GTR Home > Conditions/Phenotypes > Hereditary fructosuria


Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits. Ali et al. (1998) provided a detailed review of the biochemical, genetic, and molecular basis of aldolase B deficiency in hereditary fructose intolerance. [from OMIM]

Associated genes

Clinical features

  • Glycosuria
  • Hyperbilirubinemia
  • Hyperuricosuria
  • Bicarbonaturia
  • Intellectual disability
  • Lactic acidosis
  • Proximal tubulopathy
  • Seizure
  • Nausea
  • Failure to thrive
  • Vomiting
  • Jaundice
  • Lethargy
  • Coma
  • Cirrhosis
  • Hepatic steatosis
  • Metabolic acidosis
  • Hypoglycemia
  • Abdominal pain
  • Proximal renal tubular acidosis
  • Hypophosphatemia
  • Hyperuricemia
  • Gastrointestinal hemorrhage
  • Hepatomegaly
  • Elevated hepatic transaminases
  • Hyperphosphaturia
  • Malnutrition
  • Fructose intolerance
  • Transient aminoaciduria
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