Loss-of-function mutations in LRPPRC cause a congenital mitochondrial disease called Leigh syndrome, French-Canadian type that is often characterized by mitochondrial complex IV deficiency and impaired mitochondrial respiration and in some cases, neonatal cardiomyopathy and congenital cardiac abnormalities have been reported (Mootha et al., 2003; Oláhová et al., 2015). Here, LRPPRC is linked to inborn mitochondrial metabolism disorder.