{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:39:15Z","timestamp":1792658355752,"version":"4.5.0"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T00:00:00Z","timestamp":1754524800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T00:00:00Z","timestamp":1754524800000},"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":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Classic homocystinuria (HCU) is caused by a deficiency in cystathionine beta\u2010synthase, leading to excessive accumulation of homocysteine and methionine in plasma and tissues. Clinical manifestations typically involve the eyes, skeleton, central nervous system, and vasculature. Thromboembolic events, such as stroke and deep vein thrombosis, are well\u2010recognized complications. Here, we report four patients with poorly controlled HCU who developed acute pancreatitis (AP) with varying outcomes, along with 11 additional cases identified through a literature review. This study highlights AP as a potential complication in poorly controlled HCU, expanding the clinical spectrum of the disease and offering guidance on surveillance and appropriate acute management.<\/jats:p>","DOI":"10.1002\/ajmg.a.64211","type":"journal-article","created":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T07:03:52Z","timestamp":1754550232000},"page":"155-161","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-3578-3868","authenticated-orcid":false,"given":"Rana","family":"Aljaberi","sequence":"first","affiliation":[{"name":"Department of Human Genetics Emory University, School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay","family":"Romo","sequence":"additional","affiliation":[{"name":"Division of Genetics &amp; Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reuven Zev","family":"Cohen","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology, Hepatology, and Nutrition Emory University School of Medicine, Children's Healthcare of Atlanta  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taeylor","family":"Mellor","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeline","family":"Steffensen","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Can","family":"Ficicioglu","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan","family":"Hainline","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics Indianapolis Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Gambello","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University, School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harvey L.","family":"Levy","sequence":"additional","affiliation":[{"name":"Division of Genetics &amp; Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9367-0761","authenticated-orcid":false,"given":"Hong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University, School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.288.16.2015"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799693"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells11111737"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.5772\/intechopen.1005592"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050237"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01685-9"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1746.1993.tb01176.x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/hvad027"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-76148-0_8"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1536-4801.1997.tb01878.x"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005682219894"},{"issue":"8","key":"e_1_2_9_13_1","article-title":"Hypermethioninemia Leads to Fatal Bleeding and Increased Mortality in a Transgenic I278T Mouse Model of Homocystinuria","volume":"8","author":"Park I.","year":"2020","journal-title":"Biomedicine"},{"issue":"4","key":"e_1_2_9_14_1","first-page":"469","article-title":"Chronic Pancreatitis in Homocystinuria","volume":"32","author":"Patil R. V.","year":"1995","journal-title":"Indian Pediatrics"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0753-1"},{"issue":"1","key":"e_1_2_9_16_1","doi-asserted-by":"crossref","first-page":"72","DOI":"10.15537\/1658-3175.1940","article-title":"Profile of Acute Pancreatitis in Jizan, Saudi Arabia","volume":"24","author":"Singal A. K.","year":"2003","journal-title":"Saudi Medical Journal"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0791-8"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(23)02714\u20109"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcvm.2022.1109445"}],"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.64211","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.64211","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64211","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T07:54:12Z","timestamp":1792655652000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,7]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1002\/ajmg.a.64211"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64211","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,7]]},"assertion":[{"value":"2025-05-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-26","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}