This study investigates the clinical manifestations of primary coenzyme Q10 deficiency in neonates with the COQ4 mutation to improve the diagnosis of the disease and the prognosis through targeted treatment.<h4>Methods</h4>We report 4 patients with primary coenzyme Q10 deficiency by COQ4 variants in neonates. This evidence concerns the gene COQ4 and coenzyme Q10 deficiency.