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Article

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.

Journal of inherited metabolic disease - 1 Oct 2010

Scharer Gunter, Brocker Chad, Vasiliou Vasilis, Creadon-Swindell Geralyn, Gallagher Renata C, Spector Elaine, Van Hove Johan L K

Abstract excerpt

Pyridoxine-dependent epilepsy is a disorder associated with severe seizures that may be caused by deficient activity of α-aminoadipic semialdehyde dehydrogenase, encoded by the ALDH7A1 gene, with accumulation of α-aminoadipic semialdehyde and piperideine-6-carboxylic acid. The latter reacts with pyridoxal-phosphate, explaining the effective treatment with pyridoxine. We report the clinical phenotype of three...

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Identifiers

PMID: 20814824
DOI: 10.1007/s10545-010-9187-2
PMCID: PMC3112356

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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