title: Glutaric aciduria type I: outcome in the Republic of Ireland.
abstract: Twenty-one patients have been diagnosed with glutaric aciduria type I over a 16-year period in the Republic of Ireland, 11 following clinical presentation and 10 following a high-risk screen. Nineteen have been managed with diet. 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, 10 were diagnosed following a high-risk screen. Seven of the 11 have no abnormal neurological signs; 6 of the 7 have abnormal CT or MRI findings; and no case of striatal degeneration has occurred during the past 14 years in the high-risk screened group.
authors.affiliation: The National Centre of Inherited Metabolic Disorders, Children's University Hospital, Dublin 1, Ireland. Eiln@gofree.indigo.ie
authors.forename: E R
authors.initials: ER
authors.lastname: Naughten
authors.forename: P D
authors.initials: PD
authors.lastname: Mayne
authors.forename: A A
authors.initials: AA
authors.lastname: Monavari
authors.forename: S I
authors.initials: SI
authors.lastname: Goodman
authors.forename: G
authors.initials: G
authors.lastname: Sulaiman
authors.forename: D T
authors.initials: DT
authors.lastname: Croke
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000453:epidemiology / Q000401:mortality / Q000628:therapy*; D001927:Brain Diseases / Q000209:etiology / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D007494:Ireland / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics / Q000502:physiology; D017072:Neostriatum / Q000473:pathology; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D005977:Glutarates; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid