Hereditary fructose intolerance
Hereditary fructose intolerance
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.
Also known as Fructosaemia, fructose intolerance, Fructose Intolerance, Hereditary, fructose-1,6-bisphosphate aldolase B deficiency, fructosemia, hereditary fructose intolerance, hereditary fructose intolerance syndrome, hereditary fructose-1-phosphate aldolase deficiency, hereditary fructosemia — per MONDO