In contrast to the original cases with COQ2 defects and encephalonephropathies, Desbats et al.[25] described a neonatal case with severe lactic acidosis, proteinuria, dicarboxylic aciduria, hepatic insufficiency, hypokinetic, and dilated left ventricle on echocardiography, although without clinical signs of cardiomyopathy, who died within the first 24 h of life. This evidence concerns the gene COQ2 and lactic acidosis.