title: Urinary organic acid screening in children with developmental language delay.
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 developmental language 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.
authors.affiliation: Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.
authors.forename: M
authors.initials: M
authors.lastname: Michelson
authors.forename: S
authors.initials: S
authors.lastname: Harel
authors.forename: A
authors.initials: A
authors.lastname: Gutman
authors.forename: T
authors.initials: T
authors.lastname: Lerman-Sagie
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005650:Fumarates / Q000652:urine; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007805:Language Development Disorders / Q000150:complications / Q000652:urine*; D008297:Male; D008314:Malonates / Q000652:urine; D008403:Mass Screening; D015093:Meglutol / Q000031:analogs & derivatives / Q000652:urine
chemical_list: D005650:Fumarates; D005977:Glutarates; D008314:Malonates; C033686:3-methylglutaric acid; C038080:ethylmalonic acid; C022034:3-methylglutaconic acid; C032005:fumaric acid; D015093:Meglutol; C035736:glutaric acid