CAJ | 학술논문

黏多糖贮积症（mucopolysaccharidoses，MPSs）是由于降解黏多糖（glycosaminoglycans，GAGs）相关的酶（溶酶体酶）先天性缺陷，致使不同的黏多糖不能完全降解而在各种细胞组织内沉积而引起的一组疾病。由于这组疾病发生的渐进性，多个器官受累，且重要器官的损伤是不可逆的特征，早期诊断和早期干预治疗就尤为重要。现围绕着亚太人群中黏多糖贮积症的多发类型、治疗方法以及新生儿诊断和筛查等方面对黏多糖贮积症近些年的研究进行了总结阐述。
점다당저적증（mucopolysaccharidoses，MPSs）시유우강해점다당（glycosaminoglycans，GAGs）상관적매（용매체매）선천성결함，치사불동적점다당불능완전강해이재각충세포조직내침적이인기적일조질병。유우저조질병발생적점진성，다개기관수루，차중요기관적손상시불가역적특정，조기진단화조기간예치료취우위중요。현위요착아태인군중점다당저적증적다발류형、치료방법이급신생인진단화사사등방면대점다당저적증근사년적연구진행료총결천술。
Mucopolysaccharidoses ( MPSs ) is a group of rare genetic disorders, classed as lysosomal storage diseases (LSDs).MPSs is characterized by deficiency of lysosomal enzymes which responsible for the normal degradation of glycosaminoglycans ( GAGs ) or mucopolysaccharides.The enzyme deficiency leads to progressive lysosomal accumulation of GAGs and their excretion in the urine, followed by cellular dysfunction and clinical abnormalities.Due to the progressive nature of these diseases, early diagnosis and early therapeutic intervention is of major importance.Here, we provide an overview of the types, diagnosis and therapy of MPSs, including the newborn screening that studied in South Korea, Japan and Taiwan areas.