탠덤 질량분석기를 이용한 헌터 증후군과 연관된 iduronate-2-sulfatase 효소 활성도 직접 검사법 개발

Mucopolysaccharidosis;Hunter syndrome;Tandem mass spectrometry;Dried blood spot;610

의과대학 의학과 ;

University:서울대학교 대학원

关键词: Mucopolysaccharidosis;    Hunter syndrome;    Tandem mass spectrometry;    Dried blood spot;    610;   

Others  :  http://s-space.snu.ac.kr/bitstream/10371/132767/1/000000026066.pdf

美国|英语

来源: Seoul National University Open Repository

【 摘 要 】

however, a slight flattening was observed in the product versus DBS curve for more than one DBS. For our enzyme assay, the amount of product obtained increased linearly with the incubation period from 0 to 15 h. The enzyme activities measured in the DBSs were consistently lower in patients with MPS II than in normal newborns. Conclusions: The performance of our enzyme assay was generally acceptable. In addition, it may be possible to simultaneously test multiple enzymes related to lysosomal storage diseases. To the best of our knowledge, this is the first report describing the use of MS/MS for the diagnosis of MPS II with a commercially available substrate. Our method provides a rapid, inexpensive, effective screening tool for the diagnosis of MPS II worldwide.