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.
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.
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.
Monavari AA, Naughten ER (2000)Prevention of cerebal palsy in glutaric aciduria type I by dietary management.Arch Dis Child 82:67-70.
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.
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.
Twomey EL, Naughten ER, Donoghue VB, Ryan S (2003)Neuroimaging findings in glutaric aciduria type 1.Pediatr Radiol 33:823-830.
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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