Abstract: 　Objective　To explore the clinical and genetic characteristics of complex glycerol kinase deficiency (GKD). Methods　The clinical data of 2 cases of complex GKD were analyzed and the related literatures were reviewed. Results　Both cases were male onset in neonatal period, and had hypocorticalism (hyponatremia, hyperkalemia, dehydration), hypercreatine kinasemia, and pseudotriglyceridemia. Gene detection suggested that there was gene deletion in chromosome Xp21 region. In the follow-up, one case had good control of the disease and one died of infection. Conclusions　Complex GKD is an X-linked recessive hereditary disease. It is rare and complicated, and is easily misdiagnosed. Early diagnosis and treatment are beneficial to improve the prognosis.