TS Wong, KY Leung, EKC Yau, GSF Ng

Abstract

Primary coenzyme Q10 deficiency is a group of clinically heterogeneous autosomal recessive disorders caused by genes encoding proteins involved in coenzyme Q10 biosynthesis, resulting in mitochondrial dysfunction. We report two cases of primary coenzyme Q10 deficiency-7 caused by homozygous c.370 G>A pathogenic variant of the COQ4 gene, the Chinese-specific founder mutation reported by Yu et al. Our patients presented in the neonatal or early infantile period with epilepsy, sepsis-like picture with lactic acidosis. They highlight the potential benefit of early treatment, and thus the importance of having high index of suspicion for Primary Coenzyme Q10 Defciency-7 in patients with neonatal or infantile onset epilepsy in our locality.