Abstract
The prevalence of 3-methylglutaconic aciduria was evaluated among children with developmental language disorders. A urine specimen was obtained from 40 children referred for developmental language delay to the Tel-Aviv Child Development Center during 12/96–6/97 and from 50 age-matched controls. Urine organic acids were analysed by gas chromatography–mass spectrometry. Urinary 3-methylglutaconic acid was quantified. A mildly increased excretion of 3-methylglutaconic acid was found in 8 children with developmental language delay. The combined excretion of 3-methylglutaconic and 3-methylglutaric acid was increased in 9 patients. There were no differences in the excretion of other organic acids. The patients with elevated 3-methylglutaconic acid did not differ from the other patients with developmentallanguage disorders in any of the parameters evaluated. Mildly elevated urinary levels of 3-methylglutaconic acid may be a marker of a still undefined metabolic disorder presenting with developmental language delay. A further study in large groups of children with different developmental disorders is mandatory.
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Michelson, M., Harel, S., Gutman, A. et al. Urinary organic acid screening in children with developmental language delay. J Inherit Metab Dis 22, 815–820 (1999). https://doi.org/10.1023/A:1005558108125
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DOI: https://doi.org/10.1023/A:1005558108125