History of glycogen storage disease type Ⅱ

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.

DOI: 10.3969/j.issn.1672-6731.2018.08.002