{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T16:07:36Z","timestamp":1772726856280,"version":"3.50.1"},"reference-count":6,"publisher":"SMC Media","issue":"3","license":[{"start":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T00:00:00Z","timestamp":1770854400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Background:\u00a0Adult-onset citrullinemia type II (CTLN2) is a rare autosomal recessive urea cycle disorder caused by mutations in the solute carrier family 25 member 13 (SLC25A13) gene, which encodes citrin\u2013a mitochondrial transporter involved in the malate\u2013aspartate shuttle. In adults, CTLN2 may present atypically as isolated hypertriglyceridemia, often misattributed to secondary dyslipidaemia. Case description:\u00a0A 30-year-old Vietnamese male with longstanding severe hypertriglyceridemia, first identified at age 13, was referred after an episode of acute pancreatitis at age 28. At presentation, plasma triglyceride levels reached 34.61 mmol\/l. Secondary causes were excluded. Genetic testing via next-generation sequencing revealed compound heterozygous\u00a0SLC25A13\u00a0mutations: c.2T&gt;C and c.1638_1660dup, resulting in p.Met1Thr and p.Ala554GlyfsTer17, confirming the diagnosis of CTLN2. Initiation of a low-carbohydrate, high-protein, low-fat diet combined with fenofibrate (145 mg\/day) led to a rapid reduction in triglyceride levels, normalizing within two weeks and remaining stable over three months. The treatment was well tolerated, with no reported adverse effects. Conclusion:\u00a0CTLN2 should be considered in young adults with persistent, unexplained, and severe hypertriglyceridemia. Dietary modification constitutes the cornerstone of management, with fibrates playing a supportive role.<\/jats:p>","DOI":"10.12890\/2026_006200","type":"journal-article","created":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T15:21:13Z","timestamp":1771255273000},"source":"Crossref","is-referenced-by-count":0,"title":["Looking beyond severe hypertriglyceridemia when diagnosing adult-onset citrullinemia type II"],"prefix":"10.12890","volume":"13","author":[{"given":"Thanh-Huong","family":"Truong","sequence":"first","affiliation":[{"name":"Phenikaa University Hospital and Faculty of Medicine, Phenikaa University, Hanoi, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ngoc-Thanh","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Cardiology, Hanoi Medical University, Hanoi, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doan-Loi","family":"Do","sequence":"first","affiliation":[{"name":"Department of Cardiology, Hanoi Medical University, Hanoi, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minh-Phuong","family":"Vu","sequence":"first","affiliation":[{"name":"Department of Cardiology, Hanoi Medical University, Hanoi, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mai-Ngoc Thi","family":"Nguyen","sequence":"first","affiliation":[{"name":"Vietnam National Heart Institute, Bach Mai Hospital, Hanoi, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-An","family":"Le","sequence":"first","affiliation":[{"name":"Vietnam National Heart Institute, Bach Mai Hospital, Hanoi, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thanh-Tung","family":"Le","sequence":"first","affiliation":[{"name":"Vietnam National Heart Institute, Bach Mai Hospital, Hanoi, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10397","published-online":{"date-parts":[[2026,2,12]]},"reference":[{"key":"10.12890\/2026_006200_ref1","doi-asserted-by":"crossref","unstructured":"Hayasaka K, Numakura C. Adult-onset type II citrullinemia: Current insights and therapy. Appl Clin Genet 2018;11:163-170. doi: 10.2147\/TACG.S162084","DOI":"10.2147\/TACG.S162084"},{"key":"10.12890\/2026_006200_ref2","doi-asserted-by":"crossref","unstructured":"Okano Y, Ohura T, Sakamoto O, Inui A. Current treatment for citrin deficiency during NICCD and adaptation\/compensation stages: Strategy to prevent CTLN2. Mol Genet Metab 2019;127:175-183. doi: 10.1016\/j.ymgme.2019.06.004","DOI":"10.1016\/j.ymgme.2019.06.004"},{"key":"10.12890\/2026_006200_ref3","doi-asserted-by":"crossref","unstructured":"Kido J, Makris G, Santra S, H\u00e4berle J. Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition. J Inherit Metab Dis 2024;47:1144-1156. doi: 10.1002\/jimd.12722","DOI":"10.1002\/jimd.12722"},{"key":"10.12890\/2026_006200_ref4","doi-asserted-by":"crossref","unstructured":"Tran NH, Nguyen Thi TH, Tang HS, Hoang LP, Nguyen TL, Tran NT, et al. Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing. Hum Mutat 2021;42:1229-1238. doi: 10.1002\/humu.24253","DOI":"10.1002\/humu.24253"},{"key":"10.12890\/2026_006200_ref5","doi-asserted-by":"crossref","unstructured":"Nguyen MT, Nguyen AP, Ngo DN, Nguyen PT, Tang HS, Giang H, et al. The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis. J Hum Genet 2023;68:305-312. doi: 10.1038\/s10038-022-01112-2","DOI":"10.1038\/s10038-022-01112-2"},{"key":"10.12890\/2026_006200_ref6","doi-asserted-by":"crossref","unstructured":"Kakiuchi T, Nakayama A, Akiyama T, Martsuo M. Chronic pancreatitis and pancreatic pseudocyst with adult-onset type II citrullinemia. Clin J Gastroenterol 2020;13:97-101. doi: 10.1007\/s12328-019-01011-8","DOI":"10.1007\/s12328-019-01011-8"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/6200\/5114","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/6200\/5115","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/6200\/5115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T15:07:28Z","timestamp":1772723248000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/6200"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,12]]},"references-count":6,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.12890\/2026_006200","relation":{"has-manifestation":[{"id-type":"other","id":"1-164-6200-g5114","asserted-by":"subject"},{"id-type":"other","id":"1-164-6200-g5115","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-164","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"value":"2284-2594","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,12]]}}}