Communications Biology (Sep 2022)
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II
- Jona Merx,
- Rianne E. van Outersterp,
- Udo F. H. Engelke,
- Veronique Hendriks,
- Ron A. Wevers,
- Marleen C. D. G. Huigen,
- Huub W. A. H. Waterval,
- Irene M. L. W. Körver-Keularts,
- Jasmin Mecinović,
- Floris P. J. T. Rutjes,
- Jos Oomens,
- Karlien L. M. Coene,
- Jonathan Martens,
- Thomas J. Boltje
Affiliations
- Jona Merx
- Radboud University, Institute for Molecules and Materials, Synthetic Organic Chemistry, Heyendaalseweg 135
- Rianne E. van Outersterp
- Radboud University, Institute for Molecules and Materials, FELIX Laboratory, Toernooiveld 7
- Udo F. H. Engelke
- Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Geert Grooteplein Zuid 10
- Veronique Hendriks
- Radboud University, Institute for Molecules and Materials, Synthetic Organic Chemistry, Heyendaalseweg 135
- Ron A. Wevers
- Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Geert Grooteplein Zuid 10
- Marleen C. D. G. Huigen
- Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Geert Grooteplein Zuid 10
- Huub W. A. H. Waterval
- Department of Clinical Genetics, Maastricht University Medical Center
- Irene M. L. W. Körver-Keularts
- United for Metabolic Disease, UMD
- Jasmin Mecinović
- Department of Physics, Chemistry and Pharmacy, University of Southern Denmark, Campusvej 55
- Floris P. J. T. Rutjes
- Radboud University, Institute for Molecules and Materials, Synthetic Organic Chemistry, Heyendaalseweg 135
- Jos Oomens
- Radboud University, Institute for Molecules and Materials, FELIX Laboratory, Toernooiveld 7
- Karlien L. M. Coene
- Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Geert Grooteplein Zuid 10
- Jonathan Martens
- Radboud University, Institute for Molecules and Materials, FELIX Laboratory, Toernooiveld 7
- Thomas J. Boltje
- Radboud University, Institute for Molecules and Materials, Synthetic Organic Chemistry, Heyendaalseweg 135
- DOI
- https://doi.org/10.1038/s42003-022-03960-2
- Journal volume & issue
-
Vol. 5,
no. 1
pp. 1 – 8
Abstract
Combined metabolomics, NMR, and, IRIS identify biomarkers of hyperprolinemia type II (HPII) distinct from HPI and similar metabolic signatures as in patients with pyridoxine-dependent epilepsy.
