Mutations in antiquitin in individuals with pyridoxine-dependent seizures
@article{Mills2006MutationsIA, title={Mutations in antiquitin in individuals with pyridoxine-dependent seizures}, author={Philippa B Mills and Eduard A. Struys and Cornelis Jakobs and Barbara Plecko and Peter Baxter and Matthias R. Baumgartner and Mich{\`e}l A.A.P. Willemsen and Heymut Omran and Uta Tacke and Birgit Uhlenberg and Bernhard Weschke and Peter T. Clayton}, journal={Nature Medicine}, year={2006}, volume={12}, pages={307-309} }
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…
468 Citations
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