Department of Neurology, University of Michigan Health System, Ann Arbor, Ann Arbor, MI 48109-5036, USA.
Semin Neurol. 2012 Nov;32(5):506-11. doi: 10.1055/s-0033-1334469. Epub 2013 May 15.
Glycogen storage disease type II, also known as Pompe's disease or acid maltase deficiency, is caused by a deficiency in acid α-glucosidase. Severe enzyme deficiency results in infantile Pompe's disease with multiorgan involvement; a partial deficiency produces a less severe phenotype mainly consisting of a myopathy, with a later age of onset. Treatment is now available with intravenous infusion of recombinant acid α-glucosidase. Such treatment results in marked improvement in patients with infantile Pompe's disease, and modest improvement or stabilization in patients with late-onset Pompe's disease.
糖原贮积病 II 型，也称庞贝氏病或酸性麦芽糖酶缺乏症，是由酸性α-葡萄糖苷酶缺乏引起的。严重的酶缺乏导致多器官受累的婴儿型庞贝氏病；部分缺乏则产生以肌病为主、发病年龄较晚的较轻表型。目前可采用重组酸性α-葡萄糖苷酶静脉输注进行治疗。这种治疗可显著改善婴儿型庞贝氏病患者，对晚发型庞贝氏病患者也有适度改善或稳定作用。
