Next Article in Journal
Structural Analysis of Hand Drawn Bumblebee Bombus terrestris Silk
Next Article in Special Issue
Urinary Metabolic Phenotyping Reveals Differences in the Metabolic Status of Healthy and Inflammatory Bowel Disease (IBD) Children in Relation to Growth and Disease Activity
Previous Article in Journal
Angiotensin A/Alamandine/MrgD Axis: Another Clue to Understanding Cardiovascular Pathophysiology
Previous Article in Special Issue
Metabolomic Studies of Oral Biofilm, Oral Cancer, and Beyond
Article Menu
Issue 7 (July) cover image

Export Article

Open AccessReview
Int. J. Mol. Sci. 2016, 17(7), 1167; doi:10.3390/ijms17071167

Clinical Metabolomics: The New Metabolic Window for Inborn Errors of Metabolism Investigations in the Post-Genomic Era

1
Department of Metabolic Biochemistry, Rouen University Hospital, Rouen 76031, France
2
Normandie Univ, UNIROUEN, INSERM, CHU Rouen, IRIB, Laboratoire NeoVasc ERI28, Rouen 76000, France
3
Normandie Univ, UNIROUEN, INSA Rouen, CNRS, COBRA, Rouen 76000, France
4
Department of Neonatal Pediatrics and Intensive Care, Rouen University Hospital, Rouen 76031, France
*
Author to whom correspondence should be addressed.
Academic Editor: Ting-Li (Morgan) Han
Received: 11 June 2016 / Revised: 12 July 2016 / Accepted: 15 July 2016 / Published: 20 July 2016
(This article belongs to the Special Issue Metabolomic Technologies in Medicine)
View Full-Text   |   Download PDF [1893 KB, uploaded 20 July 2016]   |  

Abstract

Inborn errors of metabolism (IEM) represent a group of about 500 rare genetic diseases with an overall estimated incidence of 1/2500. The diversity of metabolic pathways involved explains the difficulties in establishing their diagnosis. However, early diagnosis is usually mandatory for successful treatment. Given the considerable clinical overlap between some inborn errors, biochemical and molecular tests are crucial in making a diagnosis. Conventional biological diagnosis procedures are based on a time-consuming series of sequential and segmented biochemical tests. The rise of “omic” technologies offers holistic views of the basic molecules that build a biological system at different levels. Metabolomics is the most recent “omic” technology based on biochemical characterization of metabolites and their changes related to genetic and environmental factors. This review addresses the principles underlying metabolomics technologies that allow them to comprehensively assess an individual biochemical profile and their reported applications for IEM investigations in the precision medicine era. View Full-Text
Keywords: metabolomics; inborn errors of metabolism; screening; diagnosis; systems medicine; precision medicine metabolomics; inborn errors of metabolism; screening; diagnosis; systems medicine; precision medicine
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

Tebani, A.; Abily-Donval, L.; Afonso, C.; Marret, S.; Bekri, S. Clinical Metabolomics: The New Metabolic Window for Inborn Errors of Metabolism Investigations in the Post-Genomic Era. Int. J. Mol. Sci. 2016, 17, 1167.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top