NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness

Abstract excerpt

The identification of mutations in NAXD in six cases from the six families reported by Van Bergen et al. (2019) was the first-ever report of the association of the NAXD gene with a mitochondrial disorder. The affected individuals presented with fever-induced, severe multisystem diseases with repeated episodes of skin lesions, and died within the first decade of life (Van Bergen et al., 2019). The article...

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