Four new biomarkers for pyridoxine-dependent epilepsy identified

Researchers at HFML-FELIX, the Translational Metabolic Laboratory (Radboudumc) and the Synthetic Organic Chemistry group (Institute for Molecules and Materials) have used the FELIX light to identify four new biomarkers for pyridoxine-dependent epilepsy. The discovery is described in a new publication in Analytical Chemistry.

The identification of these metabolites led to a parallel study that unraveled new biochemical insights in the pathophysiology of pyridoxine-dependent epilepsy.

Nowadays, metabolomics strategies are applied in a wide variety of medical fields. However, the long-standing 'grand challenge'in the utilization of this approach remains metabolite identification –determining the chemical structures of detected unknowns. Here, the researchers describe their workflow based on the detection of molecular features of interest by high-throughput untargeted Liquid chromatography–mass spectrometry (LC-MS) analysis of patient body fluids combined with targeted molecular identification of those features using infrared ion spectroscopy (IRIS).

Reference

Metabolite Identification Using Infrared Ion Spectroscopy - Novel Biomarkers for Pyridoxine-Dependent Epilepsy, Rianne E. van Outersterp, Udo F.H. Engelke, Jona Merx, Giel Berden, Mathias Paul, Thomas Thomulka, Albrecht Berkessel, Marleen C.D.G. Huigen, Leo A.J. Kluijtmans, Jasmin Mecinovic,  Floris P.J.T. Rutjes, Clara D.M. van Karnebeek, Ron A. Wevers, Thomas J. Boltje,Karlien L.M. Coene, Jonathan Martens and Jos Oomens, Anal. Chem. 2021.

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Jonathan Martens 
 Jos Oomens