Author: ["Philippa B Mills","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"]
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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 Δ1-piperideine-6-carboxylate (P6C)–α-aminoadipic semialdehyde (α-AASA) dehydrogenase. The accumulating P6C inactivates pyridoxal 5′-phosphate (PLP) by forming a Knoevenagel condensation product. Measurement of urinary α-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides a means for prenatal diagnosis.Cite this article
Mills, P., Struys, E., Jakobs, C. et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 12, 307–309 (2006). https://doi.org/10.1038/nm1366 