Urinary organic acid screening in children with developmental language delay

The prevalence of 3-methylglutaconic aciduria was evaluated among children with developmental language disorders. A urine specimen was obtained from 4 0 children referred for developmental language delay to the Tel-Aviv Child Development Center during 12/96-6/97 and from 50 age-matched controls. Urin e organic acids were analysed by gas chromatography-mass spectrometry. Urin ary 3-methylglutaconic acid was quantified. A mildly increased excretion of 3-methylglutaconic acid was found in 8 children with developmental languag e delay. The combined excretion of 3-methylglutaconic and 3-methylglutaric acid was increased in 9 patients. There were no differences in the excretio n of other organic acids. The patients with elevated 3-methylglutaconic aci d did not differ from the other patients with developmentallanguage disorde rs in any of the parameters evaluated. Mildly elevated urinary levels of 3- methylglutaconic acid may be a marker of a still undefined metabolic disord er presenting with developmental language delay. A further study in large g roups of children with different developmental disorders is mandatory.