Mitochondrial disease arising from defects in mitochondrial apoptosis inducing factor 1 (AIFM1) can cause a wide range of symptoms including encephalomyopathy, cerebellar ataxia, peripheral neuropathy, etc. [44–51]. This evidence concerns the gene AIFM1 and mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria.