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. 2004;27(6):917-20.
doi: 10.1023/B:BOLI.0000045777.82784.74.

Glutaric aciduria type I: outcome in the Republic of Ireland

E R Naughten  1 , P D Mayne, A A Monavari, S I Goodman, G Sulaiman, D T Croke
Affiliations

Glutaric aciduria type I: outcome in the Republic of Ireland

E R Naughten et al. J Inherit Metab Dis. 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.

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References

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