Abstract: Glycogen storage disease typeⅡ (GSDⅡ) is a rare progressive lysosomal storage disease caused by deficiency of acid α-glucosidase (GAA). The gene is located in 17q25.3. Diagnosis has been classically made by means of muscular biopsy. Nowadays it is more convenient to screen GAA in dried blood sample followed by GAA assessment in lymphocytes or fibroblasts or by the genetic analysis of mutations. Besides non-specific multiprofessional management, there is a specific enzyme replacement therapy (ERT) since 2006 which compensates for the missing enzyme by administration of recombinant produced enzyme. "Consensus recommendations for diagnosis and treatment of glycogen storage disease type Ⅱ", published on Natl Med J China in 2013, gives us a novel and compressive insight into this rare disease.

Key words: Glycogen storage disease type Ⅱ, Alpha-glucosidases, Reference standards, Review

摘要： 糖原贮积病Ⅱ型是一种罕见的进展性溶酶体贮积病，由位于第17 号染色体上的酸性α-葡糖苷酶（GAA）基因突变所致，呈常染色体隐性遗传。明确诊断依靠肌肉组织活检、血清α-葡糖苷酶活性检测和GAA 基因突变分析。2006 年以来，人重组α-葡糖苷酶用于该病的治疗，使患者预后显著改善。2013 年《糖原贮积病Ⅱ型诊断及治疗专家共识》在《中华医学杂志》发表，有助于提高国内相关专科医师对该病的认识以及诊断与治疗水平。

关键词: 糖原贮积病Ⅱ型, α葡糖苷酶类, 参考标准, 综述