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Science and Technology, Executive Yuan, Taiwan","award":["MOST-110-2314-B-195-029"],"award-info":[{"award-number":["MOST-110-2314-B-195-029"]}]},{"name":"Ministry of Science and Technology, Executive Yuan, Taiwan","award":["MOST-109-2314-B-195-024"],"award-info":[{"award-number":["MOST-109-2314-B-195-024"]}]},{"name":"Ministry of Science and Technology, Executive Yuan, Taiwan","award":["MOST-108-2314-B-195-012"],"award-info":[{"award-number":["MOST-108-2314-B-195-012"]}]},{"name":"Ministry of Science and Technology, Executive Yuan, Taiwan","award":["MOST-108-2314-B-195-014"],"award-info":[{"award-number":["MOST-108-2314-B-195-014"]}]},{"name":"Ministry of Science and Technology, Executive Yuan, Taiwan","award":["MMH-E-111-13"],"award-info":[{"award-number":["MMH-E-111-13"]}]},{"name":"Ministry of Science and Technology, Executive Yuan, Taiwan","award":["MMH-E-110-16"],"award-info":[{"award-number":["MMH-E-110-16"]}]},{"name":"Ministry of Science and Technology, Executive Yuan, Taiwan","award":["MMH-E-109-16"],"award-info":[{"award-number":["MMH-E-109-16"]}]},{"name":"Ministry of Science and Technology, Executive Yuan, Taiwan","award":["MMH-E-108-16"],"award-info":[{"award-number":["MMH-E-108-16"]}]},{"name":"Ministry of Science and Technology, Executive Yuan, Taiwan","award":["IISR-2020-103277"],"award-info":[{"award-number":["IISR-2020-103277"]}]},{"name":"MacKay Memorial Hospital","award":["MOST-111-2811-B-195-001"],"award-info":[{"award-number":["MOST-111-2811-B-195-001"]}]},{"name":"MacKay Memorial Hospital","award":["MOST-110-2314-B-195-010-MY3"],"award-info":[{"award-number":["MOST-110-2314-B-195-010-MY3"]}]},{"name":"MacKay Memorial Hospital","award":["MOST-110-2314-B-195-014"],"award-info":[{"award-number":["MOST-110-2314-B-195-014"]}]},{"name":"MacKay Memorial Hospital","award":["MOST-110-2314-B-195-029"],"award-info":[{"award-number":["MOST-110-2314-B-195-029"]}]},{"name":"MacKay Memorial Hospital","award":["MOST-109-2314-B-195-024"],"award-info":[{"award-number":["MOST-109-2314-B-195-024"]}]},{"name":"MacKay Memorial Hospital","award":["MOST-108-2314-B-195-012"],"award-info":[{"award-number":["MOST-108-2314-B-195-012"]}]},{"name":"MacKay Memorial Hospital","award":["MOST-108-2314-B-195-014"],"award-info":[{"award-number":["MOST-108-2314-B-195-014"]}]},{"name":"MacKay Memorial Hospital","award":["MMH-E-111-13"],"award-info":[{"award-number":["MMH-E-111-13"]}]},{"name":"MacKay Memorial Hospital","award":["MMH-E-110-16"],"award-info":[{"award-number":["MMH-E-110-16"]}]},{"name":"MacKay Memorial Hospital","award":["MMH-E-109-16"],"award-info":[{"award-number":["MMH-E-109-16"]}]},{"name":"MacKay Memorial Hospital","award":["MMH-E-108-16"],"award-info":[{"award-number":["MMH-E-108-16"]}]},{"name":"MacKay Memorial Hospital","award":["IISR-2020-103277"],"award-info":[{"award-number":["IISR-2020-103277"]}]},{"name":"Takeda Pharmaceuticals, Ltd.","award":["MOST-111-2811-B-195-001"],"award-info":[{"award-number":["MOST-111-2811-B-195-001"]}]},{"name":"Takeda Pharmaceuticals, Ltd.","award":["MOST-110-2314-B-195-010-MY3"],"award-info":[{"award-number":["MOST-110-2314-B-195-010-MY3"]}]},{"name":"Takeda Pharmaceuticals, Ltd.","award":["MOST-110-2314-B-195-014"],"award-info":[{"award-number":["MOST-110-2314-B-195-014"]}]},{"name":"Takeda Pharmaceuticals, Ltd.","award":["MOST-110-2314-B-195-029"],"award-info":[{"award-number":["MOST-110-2314-B-195-029"]}]},{"name":"Takeda Pharmaceuticals, Ltd.","award":["MOST-109-2314-B-195-024"],"award-info":[{"award-number":["MOST-109-2314-B-195-024"]}]},{"name":"Takeda Pharmaceuticals, Ltd.","award":["MOST-108-2314-B-195-012"],"award-info":[{"award-number":["MOST-108-2314-B-195-012"]}]},{"name":"Takeda Pharmaceuticals, Ltd.","award":["MOST-108-2314-B-195-014"],"award-info":[{"award-number":["MOST-108-2314-B-195-014"]}]},{"name":"Takeda Pharmaceuticals, Ltd.","award":["MMH-E-111-13"],"award-info":[{"award-number":["MMH-E-111-13"]}]},{"name":"Takeda Pharmaceuticals, Ltd.","award":["MMH-E-110-16"],"award-info":[{"award-number":["MMH-E-110-16"]}]},{"name":"Takeda Pharmaceuticals, Ltd.","award":["MMH-E-109-16"],"award-info":[{"award-number":["MMH-E-109-16"]}]},{"name":"Takeda Pharmaceuticals, Ltd.","award":["MMH-E-108-16"],"award-info":[{"award-number":["MMH-E-108-16"]}]},{"name":"Takeda Pharmaceuticals, Ltd.","award":["IISR-2020-103277"],"award-info":[{"award-number":["IISR-2020-103277"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Background: Mucopolysaccharidosis II (MPS II) is an X-linked disorder resulting from a deficiency in lysosomal enzyme iduronate-2-sulfatase (IDS), which causes the accumulation of glycosaminoglycans (GAGs) in the lysosomes of many tissues and organs, leading to progressive cellular dysfunction. An MPS II newborn screening program has been available in Taiwan since 2015. The aim of the current study was to collect and analyze the long-term follow-up data of the screen-positive subjects in this program. Methods: From August 2015 to April 2022, 548,624 newborns were screened for MPS II by dried blood spots using tandem mass spectrometry, of which 202 suspected infants were referred to our hospital for confirmation. The diagnosis of MPS II was confirmed by IDS enzyme activity assay in leukocytes, quantitative determination of urinary GAGs by mass spectrometry, and identification of the IDS gene variant. Results: Among the 202 referred infants, 10 (5%) with seven IDS gene variants were diagnosed with confirmed MPS II (Group 1), 151 (75%) with nine IDS gene variants were classified as having suspected MPS II or pseudodeficiency (Group 2), and 41 (20%) with five IDS gene variants were classified as not having MPS II (Group 3). Long-term follow-up every 6 months was arranged for the infants in Group 1 and Group 2. Intravenous enzyme replacement therapy (ERT) was started in four patients at 1, 0.5, 0.4, and 0.5 years of age, respectively. Three patients also received hematopoietic stem cell transplantation (HSCT) at 1.5, 0.9, and 0.6 years of age, respectively. After ERT and\/or HSCT, IDS enzyme activity and the quantity of urinary GAGs significantly improved in all of these patients compared with the baseline data. Conclusions: Because of the progressive nature of MPS II, early diagnosis via a newborn screening program and timely initiation of ERT and\/or HSCT before the occurrence of irreversible organ damage may lead to better clinical outcomes. The findings of the current study could serve as baseline data for the analysis of the long-term effects of ERT and HSCT in these patients.<\/jats:p>","DOI":"10.3390\/jpm12071023","type":"journal-article","created":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T04:12:01Z","timestamp":1655871121000},"page":"1023","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9619-0990","authenticated-orcid":false,"given":"Hsiang-Yu","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan"},{"name":"MacKay Junior College of Medicine, Nursing and Management, Taipei 11260, Taiwan"},{"name":"Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 40402, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-Hui","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8178-6938","authenticated-orcid":false,"given":"Chung-Lin","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan"},{"name":"MacKay Junior College of Medicine, Nursing and Management, Taipei 11260, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan-Rong","family":"Tu","sequence":"additional","affiliation":[{"name":"Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-Ting","family":"Lo","sequence":"additional","affiliation":[{"name":"The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Wen","family":"Hung","sequence":"additional","affiliation":[{"name":"The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dau-Ming","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Taipei Veterans General Hospital, Taipei 11217, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-Ying","family":"Liu","sequence":"additional","affiliation":[{"name":"The Chinese Foundation of Health, Neonatal Screening Center, Taipei 10699, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsin-Yun","family":"Liu","sequence":"additional","affiliation":[{"name":"The Chinese Foundation of Health, Neonatal Screening Center, Taipei 10699, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsiao-Jan","family":"Chen","sequence":"additional","affiliation":[{"name":"The Chinese Foundation of Health, Neonatal Screening Center, Taipei 10699, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Min","family":"Kao","sequence":"additional","affiliation":[{"name":"The Chinese Foundation of Health, Neonatal Screening Center, Taipei 10699, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Yun","family":"Wang","sequence":"additional","affiliation":[{"name":"Taipei Institute of Pathology, Neonatal Screening Center, Taipei 10374, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huey-Jane","family":"Ho","sequence":"additional","affiliation":[{"name":"Taipei Institute of Pathology, Neonatal Screening Center, Taipei 10374, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9776-2092","authenticated-orcid":false,"given":"Chih-Kuang","family":"Chuang","sequence":"additional","affiliation":[{"name":"Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"College of Medicine, Fu-Jen Catholic University, Taipei 24205, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuan-Pei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"The Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan"},{"name":"Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei 11219, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,21]]},"reference":[{"key":"ref_1","unstructured":"Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., Childs, B., Kinzler, K.W., and Vogelstein, B. 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