简介：Hereditaryfructoseintolerance(HFI)isanunderrecognized,preventablelife-threateningcondition.ItisanautosomalrecessivedisorderwithsubnormalactivityofaldolaseBintheliver,kidneyandsmallbowel.Symptomsarepresentonlyaftertheingestionoffructose,whichleadstobriskhypoglycemia,andanindividualwithcontinuedingestionwillexhibitvomiting,abdominalpain,failuretothrive,andrenalandliverfailure.AdiagnosisofHFIwasmadeina50-year-oldwomanonthebasisofmedicalhistory,responsetofructoseintolerancetest,demonstrationofaldolaseBactivityreductioninduodenalbiopsy,andmolecularanalysisofleukocyteDNAbyPCRshowedhomozygosityfortwodosesofmutantgene.HFImayremainundiagnoseduntiladultlifeandmayleadtodisastrouscomplicationsfollowinginadvertentfructoseorsorbitolinfusion.SeverallethalepisodesofHFIfollowingsorbitolandfructoseinfusionhavebeenreported.Thediagnosiscanonlybesuspectedbytakingacarefuldietaryhistory,andthiscanpresentseriouscomplications.