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 […]

Emersyn was born on August 5, 2021, after an uneventful pregnancy filled with constant kicks and movement. Labor was short—just two hours from start to finish—and delivery went smoothly. Everything seemed perfectly normal at first. When I finally got to hold him, I noticed his eyes rolling slightly and a yellowish tint to his skin, […]

Maverick was born March 24, 2017, after an uneventful pregnancy (well, besides the endless heartburn…but look at all that hair!)  He was due on March 25, but the last ultrasound indicated his weight to be about 9 pounds, and his head size was off the charts. He had a normal delivery and was born at […]