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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

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.[1]

References

  1. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Mills, P.B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M.A., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P.T. Nat. Med. (2006) [Pubmed]
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