title: Clinical Metabolomics: The New Metabolic Window for Inborn Errors of Metabolism Investigations in the Post-Genomic Era.
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.
authors.affiliation: Department of Metabolic Biochemistry, Rouen University Hospital, Rouen 76031, France. abdellah.tebani@chu-rouen.fr.|Normandie Univ, UNIROUEN, INSERM, CHU Rouen, IRIB, Laboratoire NeoVasc ERI28, Rouen 76000, France. abdellah.tebani@chu-rouen.fr.|Normandie Univ, UNIROUEN, INSA Rouen, CNRS, COBRA, Rouen 76000, France. abdellah.tebani@chu-rouen.fr.
authors.forename: Abdellah
authors.initials: A
authors.lastname: Tebani
authors.affiliation: Normandie Univ, UNIROUEN, INSERM, CHU Rouen, IRIB, Laboratoire NeoVasc ERI28, Rouen 76000, France. lenaig.abily-donval@chu-rouen.fr.|Department of Neonatal Pediatrics and Intensive Care, Rouen University Hospital, Rouen 76031, France. lenaig.abily-donval@chu-rouen.fr.
authors.forename: Lenaig
authors.initials: L
authors.lastname: Abily-Donval
authors.affiliation: Normandie Univ, UNIROUEN, INSA Rouen, CNRS, COBRA, Rouen 76000, France. carlos.afonso@univ-rouen.fr.
authors.forename: Carlos
authors.initials: C
authors.lastname: Afonso
authors.affiliation: Normandie Univ, UNIROUEN, INSERM, CHU Rouen, IRIB, Laboratoire NeoVasc ERI28, Rouen 76000, France. stephane.marret@chu-rouen.fr.|Department of Neonatal Pediatrics and Intensive Care, Rouen University Hospital, Rouen 76031, France. stephane.marret@chu-rouen.fr.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Marret
authors.affiliation: Department of Metabolic Biochemistry, Rouen University Hospital, Rouen 76031, France. soumeya.bekri@chu-rouen.fr.|Normandie Univ, UNIROUEN, INSERM, CHU Rouen, IRIB, Laboratoire NeoVasc ERI28, Rouen 76000, France. soumeya.bekri@chu-rouen.fr.
authors.forename: Soumeya
authors.initials: S
authors.lastname: Bekri
mesh_terms: D023281:Genomics; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D055432:Metabolomics / Q000379:methods*
keywords: diagnosis; inborn errors of metabolism; metabolomics; precision medicine; screening; systems medicine