{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:23:42Z","timestamp":1790814222692,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T00:00:00Z","timestamp":1557446400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004956","name":"Minnesota Department of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004956","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Minnesota became the fourth state to begin newborn screening (NBS) for X\u2010linked adrenoleukodystrophy (X\u2010ALD) in 2017. As there is limited retrospective data available on NBS for X\u2010ALD, we analyzed Minnesota's NBS results from the first year of screening. C26:0 lysophosphatidylcholine (C26:0\u2010LPC) screening results of 67,836 infants and confirmatory testing (<jats:italic>ABCD1<\/jats:italic> gene and serum VLCFA analysis) for screen positives were obtained. Fourteen infants (nine males, five females) screened positive for X\u2010ALD and all were subsequently confirmed to have X\u2010ALD, with zero false positives. The birth prevalence of X\u2010ALD in screened infants was 1 in 4,845 and 1 in 3,878 males, more than five times previous reported incidences. Pedigrees of affected infants were analyzed, and 17 male (mean age of 17) and 24 female relatives were subsequently diagnosed with X\u2010ALD. Phenotypes of these family members included self\u2010reported mild neuropathy symptoms in two males and seven females, and childhood cerebral disease (ccALD) and adrenal insufficiency in one male. We observed fewer cases of ccALD and adrenal insufficiency than expected in male family members (5.9% of males for both) compared to previous observations. Together, these findings suggest that the spectrum of X\u2010ALD may be broader than previously described and that milder cases may previously have been underrepresented. Other challenges included a high frequency of variants of uncertain significance in <jats:italic>ABCD1<\/jats:italic> and an inability to predict phenotypic severity. We posit that thoughtful planning to address these novel challenges and coordination by dedicated specialists will be imperative for successful implementation of population\u2010based screening for X\u2010ALD.<\/jats:p>","DOI":"10.1002\/ajmg.a.61171","type":"journal-article","created":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T09:39:00Z","timestamp":1557481140000},"page":"1205-1213","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":74,"title":["A report on state\u2010wide implementation of newborn screening for X\u2010linked Adrenoleukodystrophy"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8603-0408","authenticated-orcid":false,"given":"Katie","family":"Wiens","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism, Departments of Pediatrics and Genetics, Cell Biology &amp; Development University of Minnesota  Minneapolis MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan A.","family":"Berry","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Departments of Pediatrics and Genetics, Cell Biology &amp; Development University of Minnesota  Minneapolis MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyoung","family":"Choi","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology University of Minnesota  Minneapolis MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Gaviglio","sequence":"additional","affiliation":[{"name":"Minnesota Department of Health  St. Paul MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashish","family":"Gupta","sequence":"additional","affiliation":[{"name":"Division of Blood and Marrow Transplantation, Department of Pediatrics University of Minnesota  Minneapolis MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Hietala","sequence":"additional","affiliation":[{"name":"Minnesota Department of Health  St. Paul MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Kenney\u2010Jung","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology University of Minnesota  Minneapolis MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9174-8919","authenticated-orcid":false,"given":"Troy","family":"Lund","sequence":"additional","affiliation":[{"name":"Division of Blood and Marrow Transplantation, Department of Pediatrics University of Minnesota  Minneapolis MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weston","family":"Miller","sequence":"additional","affiliation":[{"name":"Sangamo Therapeutics, Inc.  Brisbane CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth I.","family":"Pierpont","sequence":"additional","affiliation":[{"name":"Division of Clinical Behavioral Neuroscience,Department of Pediatrics University of Minnesota  Minneapolis MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald","family":"Raymond","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics Penn State Health Milton S. Hershey Medical Center  Hershey PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly","family":"Winslow","sequence":"additional","affiliation":[{"name":"Minnesota Department of Health  St. Paul MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1941-664X","authenticated-orcid":false,"given":"Heather A.","family":"Zierhut","sequence":"additional","affiliation":[{"name":"Department of Genetics, Cell, Biology and Development University of Minnesota  Minneapolis MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Orchard","sequence":"additional","affiliation":[{"name":"Division of Blood and Marrow Transplantation, Department of Pediatrics University of Minnesota  Minneapolis MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,10]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"ALD Mutation Database. 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