Glutaric aciduria type I: Outcome in the Republic of Ireland |
| |
Authors: | E R Naughten P D Mayne A A Monavari S I Goodman G Sulaiman D T Croke |
| |
Institution: | The National Centre of Inherited Metabolic Disorders, Children's University Hospital, Dublin 1, Ireland. Eiln@gofree.indigo.ie |
| |
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. |
| |
Keywords: | |
本文献已被 PubMed SpringerLink 等数据库收录! |
|