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Pyridoxine-dependent epilepsy

Uploader: Fegal 3 month ago  
47% 93 votes

While the effective treatment of patients with PDE requires lifelong pharmacologic supplements of pyridoxine, given the rarity of this disorder there have been no controlled studies to determine the optimal dose. A later study failed to detect ALDH7A1 pathogenic variants in these children and in two additional children presenting with pyridoxine-responsive late-onset infantile spasms [ Bennett et al ]. Studies have been published which demonstrate potential for improved biomarkers, development, and behavior in patients treated with lysine restriction in addition to pyridoxine supplementation. L-arginine competitively inhibits lysine transport and can therefore reduce lysine levels.

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