Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain

Abstract

ereditary fructose intolerance (HFI) is an autosomal recessive metabolic disorder caused by aldolase (fructosediphosphate aldolase, EC 4.1.2.13) B deficiency. Continued ingestion of noxious sugars causes hepatic and renal injury, which eventually leads to liver cirrhosis and sometimes death, particularly in small infants. 1 Treatment consists of strict elimination of fructose, sucrose, and sorbitol from the diet immediately after HFI is suspected. This diet exclusion therapy allows for a rapid recovery and, if liver and kidney damage is not irreversible, an uneventful course thereafter. Confirmatory diagnosis is generally made by intravenous fructose tolerance tests and assays of aldolase B activity in hepatic biopsies.