Hereditary fructose intolerance

Abstract

Hereditary fructose intolerance (HFI) is a rare autosomal recessive, metabolic disorder, that results from a deficiency of aldolase B (fructose-biphosphate aldolase) in the liver, kidney and intestine. Recent molecular studies have identified the mutation A149P in most European patients. We describe the first case of HFI with molecular analysis in a Portuguese child, presenting the same mutation of the aldolase B gene. The role of molecular studies in the diagnosis of HFI risk patients and their families is emphasized.