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Article

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Nature medicine - 1 Mar 2006

Mills Philippa B, Struys Eduard, Jakobs Cornelis, Plecko Barbara, Baxter Peter, Baumgartner Matthias, Willemsen Michèl A A P, Omran Heymut, Tacke Uta, Uhlenberg Birgit, Weschke Bernhard, Clayton Peter T

Abstract excerpt

We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase. The accumulating P6C inactivates pyridoxal 5'-phosphate (PLP) by forming a Knoevenagel condensation product. Measurement of urinary...

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PMID: 16491085
DOI: 10.1038/nm1366

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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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