Brooks Elizabeth D, Koeberl Dwight D
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
J Inherit Metab Dis. 2015 May;38(3):505-9. doi: 10.1007/s10545-014-9766-8. Epub 2014 Sep 16.
Glycogen storage diseases (GSD), a unique category of inherited metabolic disorders, were first described early in the twentieth century. Since then, the biochemical and genetic bases of these disorders have been determined, and an increasing number of animal models for GSD have become available. At least seven large mammalian models have been developed for laboratory research on GSDs. These models have facilitated the development of new therapies, including gene therapy, which are undergoing clinical translation. For example, gene therapy prolonged survival and prevented hypoglycemia during fasting for greater than one year in dogs with GSD type Ia, and the need for periodic re-administration to maintain efficacy was demonstrated in that dog model. The further development of gene therapy could provide curative therapy for patients with GSD and other inherited metabolic disorders.
糖原贮积病（GSD）是一类独特的遗传性代谢紊乱疾病，于20世纪早期首次被描述。从那时起，这些疾病的生化和遗传基础已被确定，并且越来越多的糖原贮积病动物模型可供使用。至少已经开发出七种大型哺乳动物模型用于糖原贮积病的实验室研究。这些模型推动了包括基因疗法在内的新疗法的发展，这些新疗法正在进行临床转化。例如，基因疗法延长了患有Ia型糖原贮积病的犬类的生存期，并在禁食期间预防低血糖超过一年，并且在该犬类模型中证明了需要定期重新给药以维持疗效。基因疗法的进一步发展可为糖原贮积病患者和其他遗传性代谢紊乱患者提供治愈性疗法。
