Feasibility of newborn screening for pyridoxine-dependent epilepsy.

ABSTRACT:

Background

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy historically characterized by seizures that are resistant to antiseizure medications. Treatment with pyridoxine and lysine reduction therapies are associated with seizure control and improved developmental outcomes. In rare circumstances, patients have died prior to diagnosis and treatment with pyridoxine, and many patients are diagnosed after six months of age when lysine reduction therapies have limited efficacy. Recently two new metabolites were identified (2S,6S-/2S,6R-oxopropylpiperidine-2-carboxylic acid, 2-OPP and 6-oxo-pipecolate, 6-oxo-pip), and we evaluated these metabolites as potential newborn screening biomarkers.

Methods

We recruited participants with a confirmed

SUBMITTER: Pauly K 

PROVIDER: S-EPMC12396694 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature