Preeti Joon

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

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 pathway, leading to toxic accumulation of damaged nicotinamide nuc...