Genetic and Metabolic Group

Department Overview Shenzhen Children's Hospital's Genetic and Metabolic Group is affiliated with the primary attending group of the Neurogenetic and Metabolic Specialty Outpatient Clinic of the Department of Neurology, with Chief Physician Chen Li serving as the leader of the primary attending group. This discipline was founded by Director Chen Shuli, a physician who returned to China after studying in Japan. After more than 20 years of dedicated development, it has accumulated extensive experience in the diagnosis and treatment of chromosomal diseases, organic acid metabolism disorders, amino acid and fatty acid metabolism abnormalities, mitochondrial diseases, lysosomal diseases, and rare clinical syndromes, among other areas. The current team brings together clinical experts in genetic and metabolic diseases, physicians specializing in neurogenetics, and professional genetic researchers, and carries out its work with the support of the Genetic and Metabolic Biochemical Screening Laboratory of the Institute of Pediatrics. It is equipped with testing equipment and technologies such as tandem mass spectrometers and gas chromatography–mass spectrometers for urine analysis. Multiple scientific research projects have been completed and others are currently underway, enabling the team to provide precision diagnosis and treatment services for patients with difficult and complex conditions in Guangdong, the Guangdong–Hong Kong–Macao Greater Bay Area, and throughout China.