Abstract:

Glycogen storage disease type Ⅱ (GSD Ⅱ), which is also called Pompe disease, is an autosomal recessive hereditary metabolic disease resulting from mutations of acid α-glucosidase (GAA). GSD Ⅱ is characterized by involvements of skeletal muscle and cardiac muscle. It has been 85 years since the discovery of GSDⅡ, and specific enzyme replacement therapy has been applied in clinic. In this review, we aim to review the milestones of GSDⅡ in clinical discovery, laboratory research, genetic diagnosis and enzyme replacement therapy and learn the development of disease research, which is helpful in inspiring and guiding clinicians to do researches.

Key words: Glycogen storage disease type Ⅱ, History of medicine, Review

摘要：

糖原贮积病Ⅱ型亦称Pompe病，是酸性α-葡糖苷酶（GAA）基因突变导致的常染色体隐性遗传代谢性疾病，主要累及骨骼肌和心肌，迄今有85 年历史，目前有特异性酶替代疗法。本文回顾糖原贮积病Ⅱ型临床发现、基础研究、基因诊断、酶替代治疗过程中的里程碑事件，学习疾病研究发展历程，以期启发和指导临床医师开展科研。

关键词: 糖原贮积病Ⅱ型, 医学史, 综述