Publication AuthorsNikhita Gogate, Mei Ling Chong, Yilei Fu, Shenglan Li, Medhat Mahmoud, Rupesh Kesharwani, Jesse M. Levine, Yishay Ben-Moshe, Kristen Fisher, Alyssa D. Runco, Sarah R. Risen, Robert Rigobello, Elizabeth Mizerik, Moez Dawood, Shalini N Jhangiani, Reid Sutton, Charul Gijavanekar, Lisa T. Emrick, Ning Liu, Qin Sun, Joshua Manor, James R. Lupski, Richard A. Gibbs, Jennifer E Posey, Fernando Scaglia, Pengfei Liu, Fritz Sedlazeck, Sarah H. Elsea, Daniel G. Calame
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.
