Factor·arcadia
NAXE-related neurometabolic/mitochondrial disorder
A lethal neurometabolic and mitochondrial encephalopathy disorder of early childhood caused by mutations in NAXE affecting NAD(P)HX repair.
Confidence
90%
active
Source
Ozaki K et al. (2024). Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy doi:10.1038/s41525-024-00429-5 ↗