Literature DB >> 10518282

Urinary organic acid screening in children with developmental language delay.

M Michelson1, S Harel, A Gutman, T Lerman-Sagie.   

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.

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Year:  1999        PMID: 10518282     DOI: 10.1023/a:1005558108125

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  15 in total

1.  Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria.

Authors:  E Holme; J Greter; C E Jacobson; N G Larsson; S Lindstedt; K O Nilsson; A Oldfors; M Tulinius
Journal:  Pediatr Res       Date:  1992-12       Impact factor: 3.756

2.  3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').

Authors:  D Chitayat; J Chemke; K M Gibson; O A Mamer; J B Kronick; J J McGill; B Rosenblatt; L Sweetman; C R Scriver
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case.

Authors:  K M Gibson; C F Lee; R S Wappner
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

4.  3-Methylglutaconic aciduria: a new variant.

Authors:  A Zeharia; O N Elpeleg; M Mukamel; R Weitz; R Ariel; M Mimouni
Journal:  Pediatrics       Date:  1992-06       Impact factor: 7.124

5.  Shunt pathway of mevalonate metabolism.

Authors:  B R Landau; H Brunengraber
Journal:  Methods Enzymol       Date:  1985       Impact factor: 1.600

Review 6.  Practitioner review: developmental language disorders: a clinical update.

Authors:  I Rapin
Journal:  J Child Psychol Psychiatry       Date:  1996-09       Impact factor: 8.982

Review 7.  Multiple syndromes of 3-methylglutaconic aciduria.

Authors:  K M Gibson; O N Elpeleg; C Jakobs; H Costeff; R I Kelley
Journal:  Pediatr Neurol       Date:  1993 Mar-Apr       Impact factor: 3.372

8.  Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.

Authors:  K M Gibson; W G Sherwood; G F Hoffman; D A Stumpf; I Dianzani; R B Schutgens; P G Barth; U Weismann; C Bachmann; P Schrynemackers-Pitance
Journal:  J Pediatr       Date:  1991-06       Impact factor: 4.406

9.  X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.

Authors:  R I Kelley; J P Cheatham; B J Clark; M A Nigro; B R Powell; G W Sherwood; J T Sladky; W P Swisher
Journal:  J Pediatr       Date:  1991-11       Impact factor: 4.406

10.  3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome.

Authors:  R I Kelley; L Kratz
Journal:  Pediatr Res       Date:  1995-05       Impact factor: 3.756

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