Pyridoxal Phosphate Supplementation in Neuropediatric Disorders

In this report we review the main pathophysiological factors related with PLP deficiency and our experience in PLP treatment in pediatric patients with low-normal CSF PLP values who presented mainly epilepsy. Only one case had a definite diagnosis (Phelan McDermid Syndrome). The results of extensive metabolic workups and targeted genetic studies were normal for all patients.

http://www.sempedneurjnl.com/article/S1071-9091(16)30039-0/fulltext?rss=yes

Source: Seminars in Pediatric Neurology - November 9, 2016 Category: Neurology Authors: Elisenda Cort ès-Saladelafont, Marta Molero-Luis, HSJD Working Group, Rafael Artuch, Àngels García-Cazorla Source Type: research