metabolic screening and metabolomics analysis in the intellectual developmental disorders mexico study

metabolic screening and metabolomics analysis in the intellectual developmental disorders mexico study

;Isabel Ibarra-González;Rocío Rodríguez-Valentín;Eduardo Lazcano-Ponce;Marcela Vela-Amieva
journal of anatomy 2017 Vol. 59 pp. 423-428
155
ibarra-gonzlez2017saludmetabolic

Abstract

Objective. Inborn errors of metabolism (IEM) are genetic conditions that are sometimes associated with intellectual  developmental disorders (IDD). The aim of this study is to contribute to the metabolic characterization of IDD of unknown etiology in Mexico. Materials and methods. Metabolic screening using tandem mass spectrometry and fluorometry will be performed to rule out IEM. In addition,target metabolomic analysis will be done to characterize the metabolomic profile of patients with IDD. Conclusion. Identification of new metabolomic profiles associated withIDD of unknown etiology and comorbidities will contribute to the development of novel diagnostic and therapeutic schemes for the prevention and treatment of IDD in Mexico.

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216862
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