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Follow\u2010up evaluation was notable for elevated C26:0, C26:1, and C26:0\/C22:0 ratio, and normal red blood cell plasmalogens levels in all three probands. Diagnoses were confirmed by molecular sequencing prior to 12\u2009months of age after clinical evaluation was inconsistent with X\u2010ALD or suggestive of AGS. For at least one proband, the early diagnosis of AGS enabled candidacy for enrollment into a therapeutic clinical trial. This report demonstrates the importance of including AGS on the differential diagnosis for individuals who screen positive for X\u2010ALD, particularly infants with abnormal neurological features, as this age of onset would be highly unusual for X\u2010ALD. While AGS is not included on the Recommended Universal Screening Panel, affected individuals can be identified early through state NBS programs so long as providers are aware of a broader differential that includes AGS. This report is timely, as state NBS algorithms for X\u2010ALD are actively being established, implemented, and refined.<\/jats:p>","DOI":"10.1002\/ajmg.a.62160","type":"journal-article","created":{"date-parts":[[2021,3,8]],"date-time":"2021-03-08T10:48:30Z","timestamp":1615200510000},"page":"1848-1853","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["<scp>Aicardi\u2010Gouti\u00e8res<\/scp> syndrome may present with positive newborn screen for X\u2010linked adrenoleukodystrophy"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6227-7895","authenticated-orcid":false,"given":"Christina G.","family":"Tise","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2987-4567","authenticated-orcid":false,"given":"Jose Andres","family":"Morales","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariel S.","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Rady Children's Hospital and University of California  San Diego California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frances","family":"Velez\u2010Bartolomei","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brendan J.","family":"Floyd","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0393-6835","authenticated-orcid":false,"given":"Rebecca J.","family":"Levy","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina P.","family":"Cusmano\u2010Ozog","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annette S.","family":"Feigenbaum","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Rady Children's Hospital and University of California  San Diego California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maura R. Z.","family":"Ruzhnikov","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"},{"name":"Division of Child Neurology, Department of Neurology Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9880-209X","authenticated-orcid":false,"given":"Chung U.","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory M.","family":"Enns","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/ket372"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.07.006"},{"key":"e_1_2_9_4_1","unstructured":"Assistance Publique \u2010 H\u00f4pitaux de Paris.A Pilot Clinical Trial of Reverse Transcriptase Inhibitors in Children With Aicardi\u2010Gouti\u00e8res Syndrome (AGS).2019.https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02363452. 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