Four new biomarkers for pyridoxine-dependent epilepsy identified

Research using FELIX for the discovery of novel biomarkers in pyridoxine-dependent epilepsy described in new publication in Analytical Chemistry.

Researchers at HFML-FELIX, the Translational Metabolic Laboratory (Radboudumc) and the Synthetic Organic Chemistry group (IMM) have identified four new biomarkers for pyridoxine-dependent epilepsy. 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 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.

More information

Jonathan Martens 
 Jos Oomens