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The clinical manifestation is very variable and comprises three types: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD: OMIM 605814), post\u2010NICCD including failure to thrive and dyslipidemia caused by citrin deficiency, and adult\u2010onset type II citrullinemia (CTLN2: OMIM 603471). Frequently, NICCD can run with a mild clinical course and manifestations may resolve in the post\u2010NICCD. However, a subset of patients may develop CTLN2 when they become more than 18\u2009years old, and this condition is potentially life\u2010threatening. Since a combination of diet with low\u2010carbohydrate and high\u2010fat content supplemented with medium\u2010chain triglycerides is expected to ameliorate most manifestations and to prevent the progression to CTLN2, early detection and intervention are important and may improve long\u2010term outcome in patients. Moreover, infusion of high sugar solution and\/or glycerol may be life\u2010threatening in patients with citrin deficiency, particularly CTLN2. The disease is highly prevalent in East Asian countries but is more and more recognized as a global entity. Since newborn screening for citrin deficiency has only been introduced in a few countries, the diagnosis still mainly relies on clinical suspicion followed by genetic testing or selective metabolic screening. This paper aims at describing (1) the different stages of the disease focusing on clinical aspects; (2) the current published clinical situation in East Asia, Europe, and North America; (3) current efforts in increasing awareness by establishing management guidelines and patient registries, hereby illustrating the ongoing development of a global network for this rare disease.<\/jats:p>","DOI":"10.1002\/jimd.12722","type":"journal-article","created":{"date-parts":[[2024,3,20]],"date-time":"2024-03-20T00:03:40Z","timestamp":1710893020000},"page":"1144-1156","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition"],"prefix":"10.1002","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1328-6696","authenticated-orcid":false,"given":"Jun","family":"Kido","sequence":"first","affiliation":[{"name":"University Children's 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