A review explains two lysine-breakdown routes in the body and argues that reducing flux through the saccharopine pathway could be therapeutic for PDE-ALDH7A1 and related disorders.

A case series summarizes seizure patterns, EEG changes, and ALDH7A1 variant findings in six children, emphasizing that early pyridoxine can normalize EEG and improve long-term outlook. Even within PDE-ALDH7A1, families can see very different seizure types and severity. This report reviews six children treated from 2017 to 2023, with most starting seizures in the neonatal […]

A neonatal case report describes multifocal seizures with severe metabolic instability and a confirmed ALDH7A1 pathogenic variant, stressing how urgent early recognition can be.

A methods-and-performance study supports adding PDE-ALDH7A1 to existing newborn screening systems by measuring 2-OPP and confirmatory markers in a single FIA-MS/MS assay.

A center cohort study tracks biochemical changes and practical adherence issues with lysine reduction therapies in 17 PDE-ALDH7A1 patients.

A mouse genetics study shows that disrupting lysine alpha-ketoglutarate reductase (LKR) upstream of ALDH7A1 can eliminate toxic intermediates and reverse seizures and cognitive deficits in an ALDH7A1-deficient model.

A systematic review compares pyridoxine alone versus adding lysine-restricted diet and/or arginine, with a focus on seizure control and neurodevelopmental outcomes.

What this is This is a case report discussing potential long-term liver safety concern in some children treated with high-dose pyridoxal-5′-phosphate (PLP). CurePDE shares this to keep our community informed, not to provide treatment guidance. Paper links: PubMed (PMID 41429136) DOI: 10.1055/a-2773-6076 Key points A small report described 4 children with vitamin B6-dependent epilepsies who […]

This article was published in March of 2023 and reviews the most up-to-date progress in pyridoxine-dependent epilepsy (PDE-ALDH7A1). This section focuses on treatment options.