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Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism

Date of news: 19 March 2021

Researchers are the FELIX Laboratory, Institute for Molecules and Materials (IMM, synthetic organic chemistry) and the Translational Metabolic Laboratory (TML) have identified amino acid-hexose conjugates in the blood plasma from patients with metabolic disorders such as phenylketonuria (PKU). Their experimental method combining next-generation metabolic screening (NGMS), NMR spectroscopy, and infrared ion spectroscopy is a novel approach to reveal the molecular identity of previously unknown metabolites that can serve as biomarkers. Every year in the Netherlands, hundreds of children are born with genetic metabolic disorders and their unique molecular fingerprints, when identified, provide critical knowledge on the biochemical pathways related to disease pathophysiology and are pivotal in improving clinical diagnosis and treatment.

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"Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism", Rianne E. van Outersterp, Sam J. Moons, Udo F. H. Engelke, Herman Bentlage, Tessa M. A. Peters, Arno van Rooij, Marleen C. D. G. Huigen, Siebolt de Boer, Ed van der Heeft, Leo A. J. Kluijtmans, Clara D. M. van Karnebeek, Ron A. Wevers, Giel Berden, Jos Oomens, Thomas J. Boltje, Karlien L. M. Coene & Jonathan Martens, Communications Biology volume 4, Article number: 367 (2021) (open access, pdf file free download)

For more information, contact Dr. Karlien Coene (karlien.coene@radboudumc.nl) or Dr. Jonathan Martens (jonathan.martens@ru.nl)