ENZYME REPLACEMENT THERAPY IN TREATMENT OF MPS I

粘多糖症I，或MPSI，是由溶酶体储存障碍引起的一系列疾病。细胞的溶酶体或消化器官中的这种酶的缺乏会导致大量叫做粘多糖的底物的积累。这些积累的物质会在这些患者中导致严重的多系统疾病，包括智力低下、心脏病、呼吸系统疾病、关节僵硬、骨骼畸形，并经常导致死亡。本研究将评价酶替代疗法治疗MPS的安全性和有效性，以及该酶在肝、脾、尿液等部位的安全性和对溶酶体储存的影响。

Mucopolysaccharidosis I, or MPSI, is a spectrum of disorders caused by a lysosomal storage disorder. This deficiency of an enzyme in the lysosome or digestive organ of the cell leads to an accumulation of large amounts of the substrates called mucopolysaccharides. This accumulated material causes severe multisystem disease in these patients, including mental retardation, heart disease, respiratory disease, joint stiffness, bone deformity and often leads to death. This study will evaluate the safety and efficacy of enzyme replacement therapy in the treatment of MPS I. Safety and effects of the enzyme on lysosomal storage in the liver, spleen, urine and other sites as well will be evaluated.