{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T10:58:24Z","timestamp":1773053904939,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T00:00:00Z","timestamp":1765497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T00:00:00Z","timestamp":1765497600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Biallelic pathogenic variants in\n                    <jats:italic>AKR1D1<\/jats:italic>\n                    cause \u03944\u20103\u2010oxosteroid 5\u03b2\u2010reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive. We report an infant who unexpectedly died at age 8\u2009weeks with hepatic dysfunction and intracerebral hemorrhage. Characteristic of CBAS2, postmortem biochemical findings showed near\u2010absent primary bile acids and accumulation of atypical bile acid intermediates. Subsequent genetic testing found compound heterozygous\n                    <jats:italic>AKR1D1<\/jats:italic>\n                    variants: NM_005989.3:c.[593C&gt;T];[782G&gt;A], p.(Pro198Leu);(Arg261His). This highlights the diagnostic challenge posed by bile acid synthesis disorders, the need for early diagnosis, and the potential for fatal outcomes without early intervention. Given the treatable nature of CBAS2, we advocate for expanded newborn screening or for rapid targeted bile acid or genetic screening in infants presenting with cholestasis, prolonged jaundice, or hyperbilirubinemia.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70025","type":"journal-article","created":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T02:25:12Z","timestamp":1765592712000},"page":"971-977","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Variants in\n                    <i>AKR1D1<\/i>\n                    and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-7063-7371","authenticated-orcid":false,"given":"Jade","family":"Hudson","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Hyunh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bojana","family":"Rakic","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of British Columbia and Children's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3097-241X","authenticated-orcid":false,"given":"Cornelius","family":"Boerkoel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,12]]},"reference":[{"key":"e_1_2_11_2_1","unstructured":"Bile acid synthesis disorders\u2014Symptoms causes treatment | NORD.2014.National Organization for Rare Disorders.https:\/\/rarediseases.org\/rare\u2010diseases\/bile\u2010acid\u2010synthesis\u2010disorders\/."},{"key":"e_1_2_11_3_1","unstructured":"Biliary Atresia Stool Card.2023.Perinatal Services BC.http:\/\/www.perinatalservicesbc.ca\/Documents\/Screening\/BiliaryAtresia\/BA_Stool_Card_Print_2023Jan.pdf."},{"key":"e_1_2_11_4_1","volume-title":"The Online Metabolic and Molecular Bases of Inherited Disease","author":"Bj\u00f6rkhem 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Disorders.2024.Rarecholestasis.https:\/\/rarecholestasis.com\/overview\u2010of\u2010bile\u2010acid\u2010synthesis\u2010disorders\/."},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000029476"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/41.8.1109"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.06.021"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010012\u20109526\u20106"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440\u20101746.2008.05669.x"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v24.i35.4086"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2006.092742"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v25.i7.859"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v18.i47.7113"}],"container-title":["American Journal of 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