Mutations in antiquitin in individuals with pyridoxine-dependent seizures |
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| Authors: | Mills Philippa B Struys Eduard Jakobs Cornelis Plecko Barbara Baxter Peter Baumgartner Matthias Willemsen Michèl A A P Omran Heymut Tacke Uta Uhlenberg Birgit Weschke Bernhard Clayton Peter T |
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| Affiliation: | Institute of Child Health, University College London with Great Ormond Street Hospital for Children National Health Service Trust, 30 Guilford Street, London, UK. |
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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 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. |
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