Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency

Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the <i>ALDH7A1</i> gene (PDE-ALDH7A1), which mainly has its onset in neonates and infants. Early diagnosis and treatment are crucial to prevent se...

Full description

Bibliographic Details
Main Authors: Hans-Otto Böhm, Mazyar Yazdani, Elise Mørk Sandås, Anja Østeby Vassli, Erle Kristensen, Helge Rootwelt, Hanne Bendiksen Skogvold, Eylert Brodtkorb, Katja Benedikte Prestø Elgstøen
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:International Journal of Molecular Sciences
Subjects:
pyridoxine-dependent epilepsy
<i>ALDH7A1</i>
UHPLC-HRMS
global metabolomics
biomarker
6-hydroxy-(S)-2-aminocaproic acid (HACA)
Online Access:https://www.mdpi.com/1422-0067/23/24/16061

Internet

https://www.mdpi.com/1422-0067/23/24/16061

Similar Items