关键词: 黏多糖贮积症Ⅰ型, 诊断, 治疗

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