{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T22:08:44Z","timestamp":1782425324820,"version":"3.54.5"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,5,13]],"date-time":"2020-05-13T00:00:00Z","timestamp":1589328000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Maple syrup urine disease (MSUD) leads to severe neurological deterioration unless diagnosed early and treated immediately. We have evaluated the effectiveness of 11\u2009years of MSUD newborn screening (NBS) in the Netherlands (screening &gt;72\u2009hours, referral if both total leucine (Xle) and valine \u2265400\u2009\u03bcmol\/L blood) and have explored possibilities for improvement by combining our data with a systematic literature review and data from Collaborative Laboratory Integrated Reports (CLIR). Dutch MSUD NBS characteristics and accuracy were determined. The hypothetical referral numbers in the Dutch population of additional screening markers suggested by CLIR were calculated. In a systematic review, articles reporting NBS leucine concentrations of confirmed patients were included. Our data showed that NBS of 1\u2009963\u2009465 newborns identified 4 MSUD patients and led to 118 false\u2010positive referrals (PPV 3.28%; incidence 1:491\u2009000 newborns). In literature, leucine is the preferred NBS parameter. Total leucine (Xle) concentrations (mass\u2010spectrometry) of 53 detected and 8 false\u2010negative patients (sampling age within 25\u2009hours in 3 patients) reported in literature ranged from 288 to 3376 (median 900) and 42 to 325 (median 209) \u03bcmol\/L blood respectively. CLIR showed increasing Xle concentrations with sampling age and early NBS sampling and milder variant MSUD phenotypes with (nearly) normal biochemical profiles are causes of false\u2010negative NBS results. We evaluated the effect of additional screening markers and established the Xle\/phenylalanine ratio as a promising additional marker ratio for increasing the PPV, while maintaining high sensitivity in the Dutch MSUD NBS.<\/jats:p>","DOI":"10.1002\/jmd2.12124","type":"journal-article","created":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T00:33:46Z","timestamp":1589416426000},"page":"68-78","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Evaluation of 11\u2009years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization"],"prefix":"10.1002","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3838-4583","authenticated-orcid":false,"given":"Kevin","family":"Stroek","sequence":"first","affiliation":[{"name":"Endocrinology Laboratory, Department of Clinical Chemistry Amsterdam Gastroenterology &amp; Metabolism, Amsterdam UMC, University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Boelen","sequence":"additional","affiliation":[{"name":"Endocrinology Laboratory, Department of Clinical Chemistry Amsterdam Gastroenterology &amp; Metabolism, Amsterdam UMC, University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marelle J.","family":"Bouva","sequence":"additional","affiliation":[{"name":"Reference Laboratory Neonatal Screening, Center for Health protection National Institute for Public Health and the Environment  Bilthoven The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"De Sain\u2010van der Velden","sequence":"additional","affiliation":[{"name":"Section Metabolic Diagnostics, Department of Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter C. 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J.","family":"Kluijtmans","sequence":"additional","affiliation":[{"name":"Translational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot F.","family":"Mulder","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Disorders Amsterdam UMC, Vrije Universiteit Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. E.","family":"Rubio\u2010Gozalbo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Clinical Genetics Maastricht University Medical Center  Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francjan J.","family":"van Spronsen","sequence":"additional","affiliation":[{"name":"Division of Metabolic Disorders, Beatrix Children's Hospital University Medical Center Groningen, University of Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gepke","family":"Visser","sequence":"additional","affiliation":[{"name":"Wilhelmina Children's Hospital University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maaike C.","family":"de Vries","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Disorders Radboud University Medical Center  Nijmegen The 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