AUTHOR=Willems Anke P. , van der Ham Maria , Schiebergen-Bronkhorst Birgit G. M. , van Aalderen Mirjam , de Barse Martina M. J. , De Gruyter Fini E. , van Hoek Ilja N. , Pras-Raves Mia L. , de Sain-van der Velden Monique G. M. , Prinsen Hubertus C. M. T. , Verhoeven-Duif Nanda M. , Jans Judith J. M. 

TITLE=A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

JOURNAL=Frontiers in Molecular Biosciences

VOLUME=Volume 10 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/molecular-biosciences/articles/10.3389/fmolb.2023.1283083

DOI=10.3389/fmolb.2023.1283083

ISSN=2296-889X

ABSTRACT=This is a provisional file, not the final typeset article Illustrating its potential, DI-HRMS detected additional patients with aberrant metabolites that were indicative of an IMD not detected by targeted plasma analysis, such as purine and pyrimidine disorders and a carnitine synthesis disorder.This one-year pilot study showed that DI-HRMS untargeted metabolomics can be used as a first-tier approach replacing targeted assays of amino acid, acylcarnitine and creatine metabolites with ample opportunities to expand. Using DI-HRMS untargeted metabolomics as a first-tier will open up possibilities to look for new biomarkers.