为加深对遗传代谢病的认识，本文从遗传代谢病筛查诊断系统的应用实际出发，通过国际国内遗传代谢病筛查的发展现状、最新进展、不足之处的分析，以及对该领域发展方向的展望，以加深临床医师对该类型疾病筛查和诊断经验，完善我国遗传代谢病筛查诊断体系，提高可治疗遗传代谢病的临床诊断率及救治率，促进该领域的发展。“,”This article reviews the present situation, progress, challenges, and the future developments for the screening and diagnosis of inherited metabolic disease (IMD) in both domestic and abroad in clinical practice, aiming to improve the screening and diagnosis system of IMD in China and to provide a reference for clinicians to increase the diagnosis and cure rate of treatable IMD, and promote the development of this field.