Table of Contents

HK J Paediatr (New Series)
Vol 28. No. 4, 2023

HK J Paediatr (New Series) 2023;28:234-237

Case Report

Two Fatal Cases of Primary Coenzyme Q10 Deficiency-7: The Southern Chinese Variant c.370G>A in the COQ4 Gene

TS Wong, KY Leung, EKC Yau, GSF Ng


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.

Keyword : COQ4; Primary coenzyme Q10 deficiency-7


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