Abstract: Mucopolysaccharidosis type I is a rare and life-threating autosomal recessive disease caused by the deficiency of α-L-iduronidase，resulting in the accumulation of heparan sulfate and dermatan sulfate in the body，leading to progressive multiple organs dysfunction. The diagnosis of MPS type I is based on the quantification of α-l-iduronidase coupled with clinical manifestations，glycosaminoglycan analysis and gene sequencing. Newborn screening is now allowing the early identification of MPS I patients. The current treatment options are mainly allogeneic hematopoietic stem cell transplantation，enzyme replacement therapy and symptomatic treatment. Gene therapy is under development.

Key words: mucopolysaccharidosis type I, diagnosis, treatment

摘要： 黏多糖贮积症Ⅰ型是一种由于溶酶体α-L-艾杜糖苷酶缺乏或活性降低，导致硫酸乙酰肝素和硫酸皮肤素在体内蓄积，而造成多器官进行性损害的致死性罕见常染色体隐性遗传病。黏多糖贮积症Ⅰ型的诊断需要结合临床表现、黏多糖测定、酶活性检测及基因检测进行。新生儿筛查对于黏多糖贮积症Ⅰ型的早期识别至关重要。目前的治疗方案主要是异基因造血干细胞移植、酶替代治疗及对症治疗，基因治疗仍处于研究阶段。

关键词: 黏多糖贮积症Ⅰ型, 诊断, 治疗