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J Inherit Metab Dis. 2004;27(6):917-20.

Glutaric aciduria type I: outcome in the Republic of Ireland.

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The National Centre of Inherited Metabolic Disorders, Children's University Hospital, Dublin 1, Ireland.


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.

[Indexed for MEDLINE]

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