Clinical Course of Hereditary Fructose Intolerance in 56 Patients

The clinical course of hereditary fructose intolerance (HFI) was investigated retrospectively in 56 patients. The most frequently observed features were hepatomegaly, vomiting, diarrhea and failure to thrive. Fructose containing formulae given in the neonatal period lead in about one third of patients to cirrhosis of the liver — regardless of the amount ingested. Among patients receiving small amounts of fructose a mild clinical course was observed five times as often as a severe course. Two out of 12 patients who had developed cirrhosis of the liver, died soon after diagnosis in the early months of life. This stresses the danger of infants receiving fructose very early. Good dietary control brought serum transaminase activity to normal in half the time required with poor control. There was no correlation between dietary control and the duration of hepatomegaly.