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Glutaric aciduria type I: outcome in the Republic of Ireland

Authors :
Philip Mayne
Gomaa Sulaiman
A. A. Monavari
David T. Croke
E. R. Naughten
Stephen I. Goodman
Source :
Journal of inherited metabolic disease. 27(6)
Publication Year :
2004

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.

Details

ISSN :
01418955
Volume :
27
Issue :
6
Database :
OpenAIRE
Journal :
Journal of inherited metabolic disease
Accession number :
edsair.doi.dedup.....b59f5a5f647afb20d32be0340a1abe03