Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
Curr Pharm Biotechnol. 2011 Jun;12(6):923-30. doi: 10.2174/138920111795542651.
Mucopolysaccharosis III (MPS III) is a lysosomal storage disorder and belongs to the group of mucopolysaccharidoses. MPS III is caused by a deficiency of one of the four enzymes catalyzing the degradation of the glycosaminoglycan heparan sulfate. MPS III is clinically characterized by progressive dementia with distinct behavioral disturbances and relatively mild somatic disease. This review will summarize and discuss the available and potential future therapeutic options for patients with MPS III. This includes enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), substrate reduction therapy (SRT), chaperone-mediated therapy, and gene therapy. Although clinical efficacy has not yet been fully demonstrated for any of these therapies, it is likely that future developments will lead to disease-modifying treatment for this devastating disease.
黏多糖贮积症 III 型（MPS III）是一种溶酶体贮积症，属于黏多糖贮积症的一种。MPS III 是由于降解糖胺聚糖硫酸乙酰肝素的四种酶之一缺乏引起的。MPS III 的临床特征为进行性痴呆，伴有明显的行为障碍和相对较轻的躯体疾病。这篇综述将总结和讨论目前可用于 MPS III 患者的和潜在的未来治疗选择。这包括酶替代疗法（ERT）、造血干细胞移植（HSCT）、底物减少疗法（SRT）、伴侣介导的治疗和基因治疗。尽管这些治疗方法的临床疗效尚未得到充分证实，但未来的发展很可能为这种毁灭性疾病带来疾病修饰治疗。
