Article
A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.
Pediatric neurology - 1 Jul 2016
Mahajnah Muhammad, Corderio Dawn, Austin Valerie, Herd Sarah, Mutch Carly, Carter Melissa, Struys Eduard, Mercimek-Mahmutoglu Saadet
Abstract excerpt
BACKGROUND: Pyridoxine-dependent epilepsy (PDE) is caused by mutations in ALDH7A1 (PDE-ALDH7A1), which encodes α-aminoadipic semialdehyde dehydrogenase in the lysine catabolic pathway, resulting in accumulation of α-aminoadipic-acid-semialdehyde. PATIENT DESCRIPTION AND RESULTS: We present a three-year treatment outcome of a child with PDE-ALDH7A1 on pyridoxine (started at age three weeks of age),...
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