Progress in genetic diagnosis and management of glycogen storage disease typeⅡ

Abstract

Glycogen storage disease type Ⅱ (GSD Ⅱ) is a rare autosomal recessive hereditary metabolic disorder characterized by progressive atrophy and weakness of skeletal muscle. It can be confirmed by clinical history, acid α-glucosidase (GAA) testing and GAA mutations. Early targeting treatment and nursing can improve the prognosis and quality of life of patients with GSDⅡ. Progress in genetic diagnosis and management of GSDⅡ will be reviewed in this paper. doi: 10.3969/j.issn.1672-6731.2014.05.005

Keywords

• Glycogen storage disease typeⅡ
• Alpha-glucosidases
• Review