Dissemin is shutting down on January 1st, 2025

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Nature Research, Nature Medicine, 3(12), p. 307-309, 2006

DOI: 10.1038/nm1366

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Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Journal article published in 2006 by Philippa B. Mills ORCID, Eduard A. Struys, Cornelis Jakobs, Barbara Plecko, Peter Baxter, Matthias Baumgartner ORCID, Michèl A. A. P. Willemsen, Heymut Omran, Uta Tacke, Birgit Uhlenberg, Bernhard Weschke ORCID, Peter T. Clayton
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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 alpha-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides a means for prenatal diagnosis.