Work

Pyridoxine-dependent early onset seizures associated with rare gene mutations: a case series

Year: 2025

Type: article

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.

Source: Journal of the Pakistan Medical Association

DOI: 10.47391/jpma.20872

Authors: Ali Hyder Nazeer, Durray Shahwar Abid Khan, Prem Chand

Institution: Aga Khan University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $650