摘要新生儿遗传代谢病筛查已在世界范围内广泛开展，串联质谱检测已逐步成为扩展的新生儿遗传代谢病筛查主要方法。基因测序作为一项新技术，已越来越多地应用于遗传代谢病诊断。我国新生儿遗传代谢病总体发病率和疾病谱尚不完全明确。利用已发表的中国新生儿串联质谱筛查遗传代谢病数据总结我国遗传代谢病总体发病率、疾病谱以及单一遗传代谢病发病率，为新生儿遗传代谢病基因测序技术的建立与相关政策法规的制定提供依据。

abstractsNeonatal inherited metabolic diseases (IMD) screening has been widely conducted worldwide. Tandem mass spectrum (MS/MS) is the main procedure of IMD screening. As a new technique, gene sequencing has been put into practice for IMD screening. Nowadays, the morbidity and disease spectrum of IMD in China is still unclear. A summary of general and single morbidity, and disease spectrum of China's IMD from publications of MS/MS screening could provide evidence for establishing neonatal IMD's genetic test and formulation of laws and regulations.