Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism

Pyridoxal 5 ’-phosphate (PLP) is an essential co-factor involved in vital metabolic pathways, including neurotransmitter production and amino acid biosynthesis [1,2]. Like all other mammals, humans cannot synthesize PLP de novo and therefore require the dietary uptake of the inactive B6 vitamers pyridoxine (P N), pyridoxal (PL), and pyridoxamine (PM) which are subsequently converted into catalytically active PLP [3]. Bioregulation of PLP involves three enzymes namely, pyridoxal kinase (PDXK), pyridoxamine 5’-phosphate oxidase (PNPO) and pyridoxal phosphatase (PDXP).

Source: Neuromuscular Disorders - April 27, 2020 Category: Neurology Authors: Natalie Keller, Natalia Mendoza-Ferreira, Reza Maroofian, Viorica Chelban, Youssef Khalil, Philippa B. Mills, Reza Boostani, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani, Holger Thiele, Henry Houlden, Brunhilde Wirth, Mert Karakaya Source Type: research