Primary coenzyme Q10 deficiency type 7 is a rare autosomal recessive genetic disease, which leads to mitochondrial disorders. It is caused by biallelic pathogenic variants in the COQ4 gene, resulting in coenzyme Q10 biosynthesis disorders, which in turn leads to abnormalities in cellular mitochondrial energy metabolism and other functions, resulting in multi-system damage. In recent years, with advances in molecular genetics and metabolomics, the clinical phenotypes and molecular mechanisms of primary coenzyme Q10 deficiency type 7 have gradually been identified. However, its diagnosis remains challenging and treatment options are also limited. This article reviews the clinical characteristics, pathological mechanisms, diagnostic approaches and treatment strategies of primary coenzyme Q10 deficiency type 7. The aim is to facilitate early identification and precise intervention of the disease, and provide a theoretical basis for related scientific research and clinical practice.