Pyridoxine-dependent early onset seizures associated with rare gene mutations: a case series Authors Ali Hyder Nazeer 5th Year MBBS Student, Aga Khan University Medical College, Karachi, Pakistan Durray Shahwar Abid Khan Department of Paediatrics and Child Health, Aga Khan University, Karachi, Pakistan Prem Chand Department of Paediatrics and Child Health, Aga Khan University, Karachi, Pakistan DOI: https://doi.org/10.47391/JPMA.20872 Keywords: Pyridoxine, Epilepsy, ALDH7A1, PNPO Abstract Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive disorder. Several genes involved in Pyridoxine (B6) metabolism have been implicated in the pathogenesis of PDE, two such genes are Aldehyde Dehydrogenase 7 Family Member A1 (ALDH7A1) and Pyridox(am)ine 5'-phosphate oxidase (PNPO). To add to the limited data on PDE, three cases of Vitamin B6 dependent neonatal epilepsy caused by pathogenic variation in the ALDH7A1 and PNPO genes are reported. PDE is a rare, but potentially debilitating, cause of neonatal-onset epilepsy. Keeping in view the variable presentations of this condition, patients with a clinical picture suggestive of PDE must be carefully evaluated and treatment initiated as early as possible to achieve the best outcomes. Keywords: Pyridoxine, Epilepsy, ALDH7A1 and PNPO. Downloads Full Text Article Published 2025-10-20 How to Cite Ali Hyder Nazeer, Durray Shahwar Abid Khan, & Prem Chand. (2025). Pyridoxine-dependent early onset seizures associated with rare gene mutations: a case series. Journal of the Pakistan Medical Association, 75(11), 1846–1849. https://doi.org/10.47391/JPMA.20872 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 75 No. 11 (2025): NOVEMBER - 2025 Section STUDENT'S CORNER CASE REPORT License Copyright (c) 2025 Journal of the Pakistan Medical Association This work is licensed under a Creative Commons Attribution 4.0 International License.