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Glutaric aciduria type I: Outcome in the Republic of Ireland

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Journal of Inherited Metabolic Disease

Abstract

Summary: 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

  • Christensen E (1983)Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I.Clin Chim Acta 129:91-97.

    Google Scholar 

  • Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC (1975)Glutaric aciduria:a ''new '' disorder of amino acid metabolism.Biochem Med 12:12-21.

    Google Scholar 

  • Greenberg CR, Prasad AN, Dilling LA,et al (2002)Outcome of the first 3-years of a DNA based neonatal screening program for glutaric academia type I in Manitoba and northwestern Ontario,Canada.Mol Genet Metab 75:70-78.

    Google Scholar 

  • Monavari AA, Naughten ER (2000)Prevention of cerebal palsy in glutaric aciduria type I by dietary management.Arch Dis Child 82:67-70.

    Google Scholar 

  • Strauss KA, Pufferberger EG, Robinson DL, Morton DH (2003)Type I glutaric aciduria,part 1:Natural history of 77 patients.Am J Med Genet 121C:38-52.

    Google Scholar 

  • Treacy EP, Lee-Chong A, Roche G, Lynch B, Ryan S, Goodman S (2003)Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype.J Inherit Metab Dis 26:72-74.

    Google Scholar 

  • Twomey EL, Naughten ER, Donoghue VB, Ryan S (2003)Neuroimaging findings in glutaric aciduria type 1.Pediatr Radiol 33:823-830.

    Google Scholar 

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Authors and Affiliations

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

    E. R. Naughten & A. A. Monavari

  2. Department of Clinical Chemistry, Children's University Hospital, Dublin, Ireland

    P. D. Mayne

  3. Department of Pediatrics, University of Colorado, Denver, Colorado, USA

    S. I. Goodman

  4. Department of Biochemistry, The Royal College of Surgeons in Ireland, Dublin, Ireland

    G. Sulaiman & D. T. Croke

Authors
  1. E. R. Naughten
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  2. P. D. Mayne
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  3. A. A. Monavari
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  4. S. I. Goodman
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  5. G. Sulaiman
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  6. D. T. Croke
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Corresponding author

Correspondence to E. R. Naughten.

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Naughten, E.R., Mayne, P.D., Monavari, A.A. et al. Glutaric aciduria type I: Outcome in the Republic of Ireland. J Inherit Metab Dis 27, 917–920 (2004). https://doi.org/10.1023/B:BOLI.0000045777.82784.74

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  • DOI: https://doi.org/10.1023/B:BOLI.0000045777.82784.74

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