| Literature DB >> 16491085 |
Philippa B Mills1, 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.
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.Entities:
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Year: 2006 PMID： 16491085 DOI： 10.1038/nm1366
Source DB: PubMed Journal: Nat Med ISSN： 1078-8956 Impact factor: 53.440