Article
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
American journal of human genetics - 1 Dec 2016
Darin Niklas, Reid Emma, Prunetti Laurence, Samuelsson Lena, Husain Ralf A, Wilson Matthew, El Yacoubi Basma, Footitt Emma, Chong W K, Wilson Louise C, Prunty Helen, Pope Simon, Heales Simon, Lascelles Karine, Champion Mike, Wassmer Evangeline, Veggiotti Pierangelo, de Crécy-Lagard Valérie, Mills Philippa B, Clayton Peter T
Abstract excerpt
Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation. A deficiency of PLP can present, therefore, as seizures and other symptoms that are treatable with PLP and/or pyridoxine. Deficiency of PLP in the brain can be caused by inborn errors affecting B6 vitamer metabolism or...
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