Mutations in antiquitin in individuals with pyridoxine-dependent seizures

@article{Mills2006MutationsIA,
  title={Mutations in antiquitin in individuals with pyridoxine-dependent seizures},
  author={P. Mills and E. Struys and C. Jakobs and B. Plecko and P. Baxter and M. Baumgartner and M. Willemsen and H. Omran and U. Tacke and B. Uhlenberg and B. Weschke and P. 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… Expand
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