{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T14:06:11Z","timestamp":1792073171965,"version":"4.4.0"},"reference-count":42,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,26]],"date-time":"2022-10-26T00:00:00Z","timestamp":1666742400000},"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":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Males with X\u2010linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and\/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in <jats:italic>ABCD1<\/jats:italic> result in elevated levels of very long\u2010chain fatty acids (VLCFA), including C26:0\u2010lysophosphatidylcholine (C26:0\u2010LPC). Newborn screening for ALD enables prospective monitoring and timely therapeutic intervention, thereby preventing irreversible damage and saving lives. The Dutch Health Council recommended to screen only male newborns for ALD without identifying untreatable conditions associated with elevated C26:0\u2010LPC, like Zellweger spectrum disorders and single peroxisomal enzyme defects. Here, we present the results of the SCAN (Screening for ALD in the Netherlands) study which is the first sex\u2010specific newborn screening program worldwide. Males with ALD are identified based on elevated C26:0\u2010LPC levels, the presence of one X\u2010chromosome and a variant in <jats:italic>ABCD1<\/jats:italic>, in heel prick dried bloodspots. Screening of 71\u2009208 newborns resulted in the identification of four boys with ALD who, following referral to the pediatric neurologist and confirmation of the diagnosis, enrolled in a long\u2010term follow\u2010up program. The results of this pilot show the feasibility of employing a boys\u2010only screening algorithm that identifies males with ALD without identifying untreatable conditions. This approach will be of interest to countries that are considering ALD newborn screening but are reluctant to identify girls with ALD because for girls there is no direct health benefit. We also analyzed whether gestational age, sex, birth weight and age at heel prick blood sampling affect C26:0\u2010LPC concentrations and demonstrate that these covariates have a minimal effect.<\/jats:p>","DOI":"10.1002\/jimd.12571","type":"journal-article","created":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T15:53:19Z","timestamp":1666108399000},"page":"116-128","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Sex\u2010specific newborn screening for <scp>X\u2010linked<\/scp> adrenoleukodystrophy"],"prefix":"10.1002","volume":"46","author":[{"given":"Monique","family":"Albersen","sequence":"first","affiliation":[{"name":"Endocrine Laboratory, Department of Clinical Chemistry Amsterdam UMC location University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha L.","family":"van der Beek","sequence":"additional","affiliation":[{"name":"Reference Laboratory for Neonatal Screening, Center for Health Protection National Institute for Public Health and the Environment (RIVM)  Bilthoven The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inge M. E.","family":"Dijkstra","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari\u00eblle","family":"Alders","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC location University of Amsterdam, Amsterdam Reproduction &amp; Development  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rinse W.","family":"Barendsen","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jet","family":"Bliek","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC location University of Amsterdam, Amsterdam Reproduction &amp; Development  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Boelen","sequence":"additional","affiliation":[{"name":"Endocrine Laboratory, Department of Clinical Chemistry Amsterdam UMC location University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merel S.","family":"Ebberink","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sacha","family":"Ferdinandusse","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M. I.","family":"Goorden","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemieke C.","family":"Heijboer","sequence":"additional","affiliation":[{"name":"Endocrine Laboratory, Department of Clinical Chemistry Amsterdam UMC location University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"},{"name":"Endocrine Laboratory, Department of Clinical Chemistry Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mandy","family":"Jansen","sequence":"additional","affiliation":[{"name":"Department for Vaccine Supply and Prevention Programs National Institute for Public Health and the Environment (RIVM)  Bilthoven The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yorrick R. J.","family":"Jaspers","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Metgod","sequence":"additional","affiliation":[{"name":"Endocrine Laboratory, Department of Clinical Chemistry Amsterdam UMC location University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gajja S.","family":"Salomons","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"},{"name":"Department of Pediatric Neurology Amsterdam UMC location University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric M.","family":"Vaz","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry Amsterdam UMC Location University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rendelien K.","family":"Verschoof\u2010Puite","sequence":"additional","affiliation":[{"name":"Department for Vaccine Supply and Prevention Programs National Institute for Public Health and the Environment (RIVM)  Bilthoven The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter 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