Since identification of LRPPRC as the causal gene for LSFC in 2003, numerous studies have demonstrated its multiple biological roles such as mitochondrial gene translation (Mili and Pinol-Roma, 2003), regulating autophagy (Zou et al., 2013), and tumorigenesis (Tian et al., 2012) and have begun to elucidate its role in the pathogenesis of LSFC. Here, LRPPRC is linked to congenital lactic acidosis, Saguenay-Lac-Saint-Jean type.