PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Viorica ChelbanMatthew P WilsonJodi Warman ChardonJana VandrovcovaM Natalia ZanettiEleni Zamba-PapanicolaouStephanie EfthymiouSimon PopeMaria R ConteGiancarlo AbisYo-Tsen LiuEloise TribolletNourelhoda A HaridyJuan A BotíaMina RytenPaschalis NicolaouAnna MinaidouKyproula ChristodoulouKristin D KernohanAlison EatonMatthew OsmondYoko ItoPierre BourqueJames E C JepsonOscar BelloFion BremnerCarla CordivariMary M ReillyMartha FoianiAmanda HeslegraveHenrik ZetterbergSimon J R HealesNicholas W WoodJames E RothmanKym M BoycottPhilippa B MillsPeter T ClaytonHenry Houldennull nullPublished in: Annals of neurology (2019)
We show that mutations in PDXK cause autosomal recessive axonal peripheral polyneuropathy leading to disease via reduced PDXK enzymatic activity and low PLP. We show that the biochemical profile can be rescued with PLP supplementation associated with clinical improvement. As B6 is a cofactor in diverse essential biological pathways, our findings may have direct implications for neuropathies of unknown etiology characterized by reduced PLP levels. ANN NEUROL 2019;86:225-240.