SLC25A46 deficiency (SLC25A46, biallelic variants, autosomal recessive inheritance, MIM #610826), has been reported to cause Leigh syndrome, optic atrophy spectrum disorder (variably associated with Parkinson disease), severe axonal sensorimotor neuropathy, cerebellar ataxia and lethal ponto‐cerebellar hypoplasia.95, 96. The gene discussed is SLC25A46; the disease is aceruloplasminemia.