Hereditary fructose intolerance

Hereditary fructose intolerance, abbreviated HFI, is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B. Affected people have no symptoms until they eat fructose, sucrose or sorbitol, after which fructose-1-phosphate accumulates and over time leads to the death of liver cells. Symptoms include vomiting, convulsions, irritability, poor feeding in babies, hypoglycemia, jaundice, hemorrhage, enlarged liver, raised uric acid and potentially kidney failure. It is an autosomal recessive condition caused by mutations in the ALDOB gene at 9q31.1, confirmed by molecular analysis, and treatment is strict avoidance of fructose in the diet. Chambers and Pratt are credited with first describing it in 1956.