A possible case of transient hereditary fructose intolerance.
A patient is described who presented with the signs and symptoms of hereditary fructose intolerance a few hours after her first fructose challenge. The diagnosis was confirmed by the demonstration of reduced activity of hepatic aldolase B towards fructose-1-phosphate. A second liver biopsy 10 months later had normal aldolase B activity towards fructose-1-phosphate and a fructose tolerance test was also normal. A possible explanation for these findings is proposed.
Catto-Smith
A G
AG
Department of Gastroenterology, Royal Children's Hospital, Parkville, Victoria, Australia.
Adams
A
A
D005260:Female; D005633:Fructose Intolerance / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D005634:Fructose-Bisphosphate Aldolase / Q000378:metabolism; D005636:Fructosephosphates / Q000378:metabolism; D006801:Humans; D007223:Infant; D007225:Infant Food; D008099:Liver / Q000201:enzymology / Q000378:metabolism
D005636:Fructosephosphates; D005634:Fructose-Bisphosphate Aldolase