Variants in SLC25A46 were first reported as disease causing in 2015 [1], and since then, several mutations in this gene have been pathologically linked to a range of neurological diseases such as optic atrophy, Leigh syndrome, axonal Charcot–Marie–Tooth disease, and lethal congenital pontocerebellar hypoplasia [1,5,8]. Here, SLC25A46 is linked to nervous system disorder.