/hereditary fructose intolerance

hereditary fructose intolerance

Rare Disease

MONDO:0009249

Also Known As

FructosaemiaFructose Intolerance, Hereditaryfructose intolerancefructose intolerance, hereditaryfructose-1,6-bisphosphate aldolase B deficiencyfructosemiahereditary fructose intolerancehereditary fructose intolerance syndromehereditary fructose-1-phosphate aldolase deficiencyhereditary fructosemiaAldob deficiencyaldolase B deficiencyfructose-1-phosphate aldolase deficiency

Definition

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.