Why child neurologists should have vitamine B6 in their pockets

Abstract

Since 1954 and the description by Hunt et al. pyridoxine dependent epilepsy (PDE) has been an important differential diagnosis in a newborn with therapy-resistant seizures. Research on the molecular background of vitamine B6 dependent epilepsies revealed a total of five inborn errors of metabolism, that do have one common endpoint, namely recuded intracellular availability of pyridoxal 5′-phosphate, an abundant cofactor in aminoacid- and neurotransmitter metabolism [1]. In view of its genetic heterogeneity, PDE should nowadays be seen as an umbrella term and the respective gene symbol be attached as an affix.