Translations:Vitamin B6/46/en

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.