New tests for mutations in the ALDH7A1 gene, related to Pyridoxine-dependent epilepsy


Tests for mutations of the ALDH7A1 (Aldehyd dehydrogenase 7 family, member A1) gene have been established. ALDH7A1 is an alpha-aminoadipic semialdehyde dehydrogenase in the pipecolic acid pathway of lysine catabolism. Mutations in the ALDH7A1 gene results in an epileptic phenotype with Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types. The clinical manifestation usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.