Multi-omics framework for diagnosing NAXE deficiency

October 18, 2025

BACKGROUND

  • NAXE encodes NAD(P)HX epimerase, which repairs damaged NADH/NADPH back to functional cofactors.
  • This pathway sustains mitochondrial energy metabolism and prevents toxic NAD(P)HX accumulation.
  • NAXE deficiency (MIM #617186) is an ultra-rare autosomal recessive disorder.
  • Features: developmental delay, recurrent encephalomyopathic crises, seizures, ataxia, neurodegeneration.
  • Onset usually in childhood, often triggered by fever/illness, with variable outcomes.