Abstract
Twenty-onepatientshavebeendiagnosedwithglutaricaciduriatypeI over a 16-year period in the Republic of Ireland, 11 following clinical presentation and10followingahigh-riskscreen.Nineteenhavebeenmanagedwithdiet.Eight patients have died, of whom 7 were diagnosed clinically. Six had dystonic and one spastic cerebral palsy. Of the 11 patients who did not have cerebral palsy, 10werediagnosedfollowingahigh-riskscreen.Sevenofthe11havenoabnormal neurological signs; 6 of the 7 have abnormal CT or MRI findings; and no case of striataldegenerationhasoccurredduringthepast14yearsinthehigh-riskscreened group.