Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
- Mills, P.B.
- Struys, E.A.
- Jakobs, C.
- Plecko, B.
- Baxter, P.
- Baumgartner, M.
- Willemsen, M.A.A.P.
- Omran, H.
- Tacke, U.
- Uhlenberg, B.
- Weschke, B.
- Clayton, P.T.
Publication date
January 2006
DOI Publisher
Springer Science and Business Media LLC ISSN
1078-8956 Citation count (estimate)
293Abstract
Contains fulltext : 50019.pdf (publisher's version ) (Closed access)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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