{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T22:00:40Z","timestamp":1764194440920,"version":"build-2065373602"},"reference-count":35,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2020,3,16]],"date-time":"2020-03-16T00:00:00Z","timestamp":1584316800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP18gk0110017"],"award-info":[{"award-number":["JP18gk0110017"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Institutional Development Award from the National Institute of General Medical Sciences of National Institutes of Health","award":["P30GM114736","1R01HD065767"],"award-info":[{"award-number":["P30GM114736","1R01HD065767"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Mucopolysaccharidoses (MPSs) are rare lysosomal storage diseases caused by the accumulation of undegraded glycosaminoglycans in cells and tissues. The effectiveness of early intervention for MPS has been reported. Multiple-assay formats using tandem mass spectrometry have been developed. Here, we developed a method for simultaneous preparation and better measurement of the activities of five enzymes involved in MPSs, i.e., MPS I, MPS II, MPS IIIB, MPS IVA, and MPS VI, which were validated using 672 dried blood spot samples obtained from healthy newborns and 23 patients with MPS. The mean values of the enzyme activities and standard deviations in controls were as follows: \u03b1-iduronidase (IDUA), 4.19 \u00b1 1.53 \u00b5M\/h; iduronate-2-sulfatase (I2S), 8.39 \u00b1 2.82 \u00b5M\/h; N-acetyl-\u03b1-glucosaminidase (NAGLU), 1.96 \u00b1 0.57 \u00b5M\/h; N-acetylgalactosamine-6-sulfatase (GALNS), 0.50 \u00b1 0.20 \u00b5M\/h; and N-acetylgalactosamine-4-sulfatase (ARSB), 2.64 \u00b1 1.01 \u00b5M\/h. All patients displayed absent or low enzyme activity. In MPS I, IIIB, and VI, each patient group was clearly separated from controls, whereas there was some overlap between the control and patient groups in MPS II and IVA, suggesting the occurrence of pseudo-deficiencies. Thus, we established a multiplex assay for newborn screening using liquid chromatography tandem mass spectrometry, allowing simultaneous pretreatment and measurement of five enzymes relevant to MPSs.<\/jats:p>","DOI":"10.3390\/ijms21062025","type":"journal-article","created":{"date-parts":[[2020,3,18]],"date-time":"2020-03-18T08:13:27Z","timestamp":1584519207000},"page":"2025","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses"],"prefix":"10.3390","volume":"21","author":[{"given":"Tsubasa","family":"Oguni","sequence":"first","affiliation":[{"name":"Clinical Laboratory Division, Shimane University Hospital, Izumo 693-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0673-2160","authenticated-orcid":false,"given":"Shunji","family":"Tomatsu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shimane University Faculty of Medicine, Izumo 693-8501, Japan"},{"name":"Nemours\/Alfred I. DuPont Children\u2019s Hospital, Wilmington, DE 19803, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Misa","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Shimadzu Corporation, Kyoto 604-8442, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Orii","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1193, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Fukao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1193, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Shimadzu Corporation, Kyoto 604-8442, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2397-3326","authenticated-orcid":false,"given":"Seiji","family":"Fukuda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shimane University Faculty of Medicine, Izumo 693-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshitomo","family":"Notsu","sequence":"additional","affiliation":[{"name":"Clinical Laboratory Division, Shimane University Hospital, Izumo 693-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dung Chi","family":"Vu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Metabolism; Center for rare disease and Newborn Screening, National Children\u2019s Hospital, Hanoi 18\/879, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thi Bich Ngoc","family":"Can","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Metabolism; Center for rare disease and Newborn Screening, National Children\u2019s Hospital, Hanoi 18\/879, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Nagai","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shimane University Faculty of Medicine, Izumo 693-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2441-764X","authenticated-orcid":false,"given":"Seiji","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shimane University Faculty of Medicine, Izumo 693-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Taketani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shimane University Faculty of Medicine, Izumo 693-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael H.","family":"Gelb","sequence":"additional","affiliation":[{"name":"Departments of Chemistry and Biochemistry, University of Washington, Seattle, WD 98195, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hironori","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shimane University Faculty of Medicine, Izumo 693-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,3,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.ymgme.2018.01.003","article-title":"Clinical presentation and diagnosis of mucopolysaccharidoses","volume":"125","author":"Stapleton","year":"2018","journal-title":"Mol. 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