Catalog
Hereditary fructose intolerance
Link to WHO Definition
Hereditary fructose intolerance – http://id.who.int/icd/entity/1925240365
Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterised by severe abdominal pain, vomiting, and hypoglycaemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate.