{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T16:58:48Z","timestamp":1783357128503,"version":"3.54.6"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T00:00:00Z","timestamp":1736726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100011917","name":"Hormozgan University of Medical Sciences","doi-asserted-by":"publisher","award":["4020047"],"award-info":[{"award-number":["4020047"]}],"id":[{"id":"10.13039\/501100011917","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":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Our objectives are to report on the outcomes of adrenal insufficiency (AI) and cerebral ALD (cALD) in children diagnosed with X\u2010linked adrenoleukodystrophy (ALD) identified by newborn screening (NBS) in Minnesota in the first 5\u2009years following initiation of NBS in 02\/2017. A retrospective chart review was conducted for children diagnosed with ALD via Minnesota NBS from 02\/06\/2017 through 02\/06\/2022. Data reviewed included newborn screening data, diagnostic very long chain fatty acid levels, <jats:italic>ABCD1<\/jats:italic> molecular testing results, serial measurements of ACTH and cortisol, and serial brain MRI results. Thirty\u2010two boys and 11 girls were molecularly and\/or biochemically confirmed to have ALD. Of these 32 boys, six (2\u20137\u2009years; median age:18\u2009months) developed AI. Two boys developed cALD and underwent stem cell transplantation, one of whom also has been diagnosed with AI. All the pathogenic\/likely pathogenic variants detected during the first 5\u2009years had initial C26:0 lysophosphatidylcholine (C26:0 lysoPC) values over 0.3\u2009\u03bcmol\/L at the time of newborn screening. The addition of ALD to NBS in Minnesota has allowed for early detection of asymptomatic AI in six young patients and asymptomatic cALD in two patients. Data from our study shows a positive correlation between high newborn screening LysoPC levels and variant pathogenicity.<\/jats:p>","DOI":"10.1002\/ajmg.a.63995","type":"journal-article","created":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T12:10:30Z","timestamp":1736770230000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5\u2010Year Update"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-2870-6259","authenticated-orcid":false,"given":"Arpana","family":"Rayannavar","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"},{"name":"M Health Fairview Masonic Children's Hospital  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9826-1860","authenticated-orcid":false,"suffix":"Jr","given":"Charles J.","family":"Billington","sequence":"additional","affiliation":[{"name":"M Health Fairview Masonic Children's Hospital  Minneapolis Minnesota USA"},{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Tryon","sequence":"additional","affiliation":[{"name":"M Health Fairview Masonic Children's Hospital  Minneapolis Minnesota USA"},{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"},{"name":"Division of Pediatric Blood and Marrow Transplantation &amp; Cellular Therapy, Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tory","family":"Kaye","sequence":"additional","affiliation":[{"name":"Minnesota Department of Health  Saint Paul Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashish","family":"Gupta","sequence":"additional","affiliation":[{"name":"M Health Fairview Masonic Children's Hospital  Minneapolis Minnesota USA"},{"name":"Division of Pediatric Blood and Marrow Transplantation &amp; Cellular Therapy, Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9174-8919","authenticated-orcid":false,"given":"Troy C.","family":"Lund","sequence":"additional","affiliation":[{"name":"M Health Fairview Masonic Children's Hospital  Minneapolis Minnesota USA"},{"name":"Division of Pediatric Blood and Marrow Transplantation &amp; Cellular Therapy, Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida","family":"Lteif","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Department of Pediatric and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Adriatico","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Medicine Children's Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Orchard","sequence":"additional","affiliation":[{"name":"M Health Fairview Masonic Children's Hospital  Minneapolis Minnesota USA"},{"name":"Division of Pediatric Blood and Marrow Transplantation &amp; Cellular Therapy, Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bradley S.","family":"Miller","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"},{"name":"M Health Fairview Masonic Children's Hospital  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nishitha R.","family":"Pillai","sequence":"additional","affiliation":[{"name":"M Health Fairview Masonic Children's Hospital  Minneapolis Minnesota USA"},{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1,13]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.101"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750\u20103639.2010.00394.x"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2005.00423.x"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.10.067"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt361"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.12.007"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvab022"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2023.107678"},{"key":"e_1_2_11_10_1","first-page":"1761","article-title":"Adrenoleukodystrophy: A Scoring Method for Brain MR Observations","volume":"15","author":"Loes D. J.","year":"1994","journal-title":"AJNR. American Journal of Neuroradiology"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells11020283"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12356"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns2040015"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531\u20108249(199901)45:1<100::aid\u2010art16>3.0.co;2\u2010u"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102003\u201010\u20103402"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2012.33"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03256261"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018\u201000920"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096\u20108628(19980413)76:5<424::aid\u2010ajmg11>3.0.co;2\u2010o"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.05.016"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469\u20108749.2007.00135.x"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61171"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63995","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,5]],"date-time":"2025-04-05T08:10:04Z","timestamp":1743840604000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63995"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,13]]},"references-count":21,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1002\/ajmg.a.63995"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63995","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,13]]},"assertion":[{"value":"2024-10-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63995"}}