黏多糖贮积症(mucopolysaccharidosis,MPS)是由于降解糖胺聚糖(glycosaminoglycans,GAGs)所需溶酶体酶缺陷所致的一类遗传代谢性疾病。研究结果显示,活产婴儿中Ⅰ、Ⅱ型MPS发病率约为0.1/10万～1.3/10万,Ⅲ、Ⅳ型MPS为0.39/万～1.87/10万,Ⅵ型MPS发病率为0/10万～0.38/10万[1-3]。由于溶酶体酶缺陷,GAGs不能正常降解,并在体内大量贮积,导致骨骼、关节、眼、耳、齿、皮肤、心血 Mucopolysaccharidosis (MPS) is a group of inherited metabolic diseases caused by defects in lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). The results showed that the incidence of type I and type II MPS in live births was about 0.1 / 100,000 to 1.3 / 100,000, the type III and IV MPS was 0.39 / 10,000 to 1.87 / 100,000, the incidence of type VI MPS was 0 / 100,000 to 0.38 / 100,000 [1-3]. Due to lysosomal enzyme deficiency, GAGs can not be normally degraded and accumulate in the body in large quantities, resulting in bone, joint, eye, ear, tooth, skin and blood