Insight into "Consensus recommendations for diagnosis and treatment of glycogen storage disease typeⅡ"

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.

doi: 10.3969/j.issn.1672-6731.2014.05.003