Hereditary fructose intolerance in childhood. Diagnosis, management, and course in 55 patients.
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.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005633:Fructose Intolerance / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D006529:Hepatomegaly / Q000150:complications / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008297:Male