Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions
- 1Department of Molecular and Human Genetics, Baylor College of Medicine, United States
Autism spectrum disorders (ASD’s) are a group of neurodevelopment disorders characterized by childhood onset deficits in social communication and interaction. Though the exact etiology of most cases of ASD’s are unknown, a portion have been proposed to be associated with various metabolic abnormalities including mitochondrial dysfunction, disorders of cholesterol metabolism and folate abnormalities. Targeted biochemical testing like plasma amino acid and acylcarnitine profiles have demonstrated limited utility in helping to diagnosis and manage such patients. Untargeted metabolomics has emerged, however, as a promising tool in screening for underlying biochemical abnormalities, managing treatment, and as a means of investigating possible novel biomarkers for the disorder. Here, we review the principles and methodology behind untargeted metabolomics, recent pilot studies utilizing this technology, ,and areas in which it may be integrated into the care of children with this disorder in the future
Keywords: Autism (ASD), untargeted metabolomics, Inborn errors of metabolism (IEM), Metabolome, Mass Spectrometry, Nuclear magnetic resonance spectroscopy (NMR)
Received: 28 Jan 2019;
Accepted: 12 Aug 2019.
Copyright: © 2019 Glinton and Elsea. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
MD, PhD. Kevin E. Glinton, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States, Kevin.Glinton@bcm.edu
PhD. Sarah H. Elsea, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States, firstname.lastname@example.org