Yi Haiqing, Gao Fengqin, Austin Stephanie, Kishnani Priya S, Sun Baodong
Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
Mol Genet Metab Rep. 2016 Oct 4;9:31-33. doi: 10.1016/j.ymgmr.2016.09.008. eCollection 2016 Dec.
Patients with progressive hepatic form of GSD IV often die of liver failure in early childhood. We tested the feasibility of using recombinant human acid-α glucosidase (rhGAA) for treating GSD IV. Weekly intravenously injection of rhGAA at 40 mg/kg for 4 weeks significantly reduced hepatic glycogen accumulation, lowered liver/body weight ratio, and reduced plasma ALP and ALT activities in GSD IV mice. Our data suggests that rhGAA is a potential therapy for GSD IV.
患有进行性肝型糖原贮积病IV型（GSD IV）的患者常在幼儿期死于肝功能衰竭。我们测试了使用重组人酸性α-葡萄糖苷酶（rhGAA）治疗GSD IV的可行性。每周静脉注射40mg/kg的rhGAA，持续4周，可显著减少GSD IV小鼠肝脏糖原积累，降低肝/体重比，并降低血浆碱性磷酸酶（ALP）和谷丙转氨酶（ALT）活性。我们的数据表明，rhGAA是治疗GSD IV的一种潜在疗法。
