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- Title
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
- Authors
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
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.
- Publication
Nature medicine, 2006, Vol 12, Issue 3, p307
- ISSN
1078-8956
- Publication type
Journal Article
- DOI
10.1038/nm1366