Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients

Am J Dis Child. 1978 Jun;132(6):605-8. doi: 10.1001/archpedi.1978.02120310069014.


The early manifestations of hereditary fructose intolerance are described in a series of 55 patients. Management of this metabolic disorder depends on the severity of liver impairment. When the patients are given a fructose-free diet, the improvement is a dramatic but liver enlargement and fatty vacuolization of liver cells often persist. These hepatic findings were also observed in the five homozygous infants who were given a fructose-free diet from birth; this outcome may support the hypothesis that minimal amounts of fructose are esential for human beings.

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Fructose Intolerance / diagnosis
  • Fructose Intolerance / diet therapy
  • Fructose Intolerance / genetics*
  • Hepatomegaly / complications
  • Hepatomegaly / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Liver / pathology
  • Male