hereditary fructose intolerance
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.
MONDO:0015178
obsolete congenital intestinal transport defect (obsolete MONDO:0015178)
excluded_subClassOf
MONDO:0017706
disorder of carbohydrate transmembrane transport and absorption
excluded_subClassOf
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0017689
disorder of fructose metabolism
is_a
MONDO:0800152
disorder of galactose and fructose metabolism
is_a
Fructosaemia
exact
Fructose Intolerance, Hereditary
exact
fructose intolerance
exact
fructose intolerance, hereditary
exact
fructose-1,6-bisphosphate aldolase B deficiency
exact
fructosemia
exact
hereditary fructose intolerance
exact
hereditary fructose intolerance syndrome
exact
hereditary fructose-1-phosphate aldolase deficiency
exact
hereditary fructosemia
exact