Recent advances in laboratory testing methods of glycogen storage disease type 2

Abstract

Glycogen storage disease type Ⅱ(GSDⅡ)is a rare, progressive and often fatal lysosomal storage disease.In recent years, with the further research on GSDⅡ, more and more laboratory testing methods have been applied to the diagnosis of GSDⅡ.Currently, enzymology testing, genetic analysis and prenatal diagnosis have been the main laboratory diagnostic methods, in which dried blood spots and genetic analysis play an important role.This article reviews GSDⅡ laboratory testing methods, aiming to provide a new theoretical basis and reference for the diagnosis of GSDⅡ. Key words: Glycogen storage disease type 2; Laboratory testing; Genetic analysis