Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Nat Med. 2006 Mar;12(3):307-9. doi: 10.1038/nm1366.

Philippa B Mills ¹, Eduard Struys, Cornelis Jakobs, Barbara Plecko, Peter Baxter, Matthias Baumgartner, Michèl A A P Willemsen, Heymut Omran, Uta Tacke, Birgit Uhlenberg, Bernhard Weschke, Peter T Clayton

Affiliations

Affiliation

1 Institute of Child Health, University College London with Great Ormond Street Hospital for Children National Health Service Trust, 30 Guilford Street, London, UK.

PMID: 16491085 DOI: 10.1038/nm1366

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.

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