糖原累积病(glycogen storate disease,GSD)是一类由于在糖原合成或水解过程中先天性酶缺陷所造成的糖原代谢障碍疾病,依据所缺陷酶的不同而分为很多亚型,各亚型临床表现不同,预后也相差很多。根据国内近30年研究,其中GSD-Ⅰa型、GSD-Ⅰb型和Ⅲ型较为多见。随着科学技术发展,GSD的诊断和治疗取得了里程碑意义的进展,国内同行对于GSD也经历了认识、熟悉到积极治疗的过程。 Glycogen strain disease (GSD) is a group of glycometabolism disorders caused by congenital enzyme defects in the process of glycogen synthesis or hydrolysis, and is divided into many subtypes according to the different enzymes Subtype of clinical manifestations, the prognosis is also a lot of difference. According to nearly 30 years of domestic research, including GSD-Ⅰ a type, GSD-Ⅰ b type and type Ⅲ more common. With the development of science and technology, GSD has made landmark progress in diagnosis and treatment. Domestic counterparts have also experienced GSD and are familiar with the active treatment process.