Translations:Vitamin B6/46/en: Difference between revisions
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Latest revision as of 16:32, 3 April 2024
Genetic defects
Genetically confirmed diagnoses of diseases affecting vitamin B6 metabolism (ALDH7A1 deficiency, pyridoxine-5'-phosphate oxidase deficiency, PLP binding protein deficiency, hyperprolinaemia type II and hypophosphatasia) can trigger vitamin B6 deficiency-dependent epileptic seizures in infants. These are responsive to pyridoxal 5'-phosphate therapy.