Radiant Research (United States)

Fatal infantile encephalopathy due to NAXE variant: Navigating the Metabolic-Mitochondrial overlap in NAXE gene

Abstract Background Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy-1 (PEBEL-1) is a rare, rapidly progressive, and often fatal infantile neurometabolic disorder caused by pathogenic variants in the NAXE gene. Loss of NAXE impairs the NAD(P)HX repair pathwa...