Genzyme Corporation, 49 New York Avenue, Framingham, MA 01701-9322, USA.
Mol Genet Metab. 2010 Aug;100(4):309-15. doi: 10.1016/j.ymgme.2010.05.001. Epub 2010 May 5.
Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid alpha-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease severity ranging from a rapidly progressive course that is typically fatal by 1-2years of age to a more slowly progressive course that causes significant morbidity and early mortality in children and adults. Recombinant human GAA (rhGAA) improves clinical outcomes with variable results. Adjunct therapy that increases the effectiveness of rhGAA may benefit some Pompe patients. Co-administration of the mTORC1 inhibitor rapamycin with rhGAA in a GAA knockout mouse reduced muscle glycogen content more than rhGAA or rapamycin alone. These results suggest mTORC1 inhibition may benefit GSDs that involve glycogen accumulation in muscle.
庞贝病，又称糖原贮积症 II 型，是由溶酶体酸性α-葡萄糖苷酶（GAA）缺乏引起的。由此导致的糖原积累引起一系列疾病严重程度，从快速进展的过程，通常在 1-2 岁时致命到更缓慢进展的过程，导致儿童和成人的显著发病率和早期死亡率。重组人 GAA（rhGAA）改善了临床结果，但结果各不相同。增加 rhGAA 有效性的辅助治疗可能对一些庞贝病患者有益。在 GAA 敲除小鼠中，将 mTORC1 抑制剂雷帕霉素与 rhGAA 联合给药可降低肌肉糖原含量，优于 rhGAA 或雷帕霉素单独给药。这些结果表明，mTORC1 抑制可能对涉及肌肉糖原积累的 GSD 有益。
