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.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.