Hereditary fructose intolerance

Orpha code: 469OMIM code: 229600

Definition

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), 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.

Disease data
Classification

Disease

Synonyms
Hereditary fructose-1-phosphate aldolase deficiency
Dziedziczna fruktozemia
Dziedziczny Niedobór aldolazy fruktozo-1-fosforanu
Hereditary fructosemia
ORPHA code
469
OMIM code
229600
ICD10 code
E74.1
ICD11 code
5C51.50

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl