糖原累积病Ⅰ型研究的新进展

Research Advances of Glycogen Storage Disease Type I

目的：综述糖原累积病Ⅰ型（ＧＳＤＩ型）近年的研究现状。方法：对国外及国内近年有关ＧＳＤＩ型研究的资料文献进行综合分析。结果：发现ＧＳＤＩ型的亚类，可用基因方法诊断该病，提出临床表现及治疗方法。结论：这些研究对临床诊断有指导意义。

Objective:To review the research situation about glycogen storage disease(GSD) type I which is an inherited metabolic disease. Method:Collecting and summarizing the related literatures within and outside of China in recent years. Results:The clinical manifestation,gene diagnosis and related treatment of GSD type I were reviewed.The subgroups of GSD was summarized,which can be identified by the gene diagnosis. Conclusion:The reviewed results are beneficial to the diagnosis and treatment of GSD type I in the clinical practice.