Harmatz Paul
Children's Hospital and Research Center Oakland, Oakland, CA, USA.
Turk J Pediatr. 2010 Sep-Oct;52(5):443-9.
Mucopolysaccharidosis VI (MPS VI) is an inheritable, clinically heterogeneous lysosomal storage disorder that develops due to a deficiency in the arylsulfatase B (ASB) enzyme. This deficiency impairs the stepwise degradation of glycosaminoglycans (GAGs) resulting in the accumulation of partially degraded GAGs in tissues and organs throughout the body. A relatively novel therapy for MPS VI is enzyme replacement therapy (ERT) with human recombinant ASB (galsulfase). This manuscript gives an overview of all clinical trials that have evaluated the efficacy and safety of ERT with galsulfase in patients with MPS VI to date and discusses the outcome of these trials.
粘多糖贮积症VI型(MPS VI)是一种遗传性、临床异质性的溶酶体贮积症,由芳基硫酸酯酶B(ASB)缺乏引起。这种缺乏会损害糖胺聚糖(GAGs)的逐步降解,导致部分降解的GAGs在全身组织和器官中蓄积。一种相对新颖的MPS VI治疗方法是用人重组ASB(galsulfase)进行酶替代疗法(ERT)。本手稿概述了迄今为止评估galsulfase酶替代疗法在MPS VI患者中的疗效和安全性的所有临床试验,并讨论了这些试验的结果。