Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Mills, PB; Struys, E; Jakobs, C; Plecko, B; Baxter, P; Baumgartner, M; Willemsen, MA; Omran, H; Tacke, U; Uhlenberg, B; Weschke, B; Clayton, PT.
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Nat Med. 2006; 12(3):307-309
Doi: 10.1038/nm1366
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PubMed
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- Co-Autor*innen der Med Uni Graz
- Plecko Barbara
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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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