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The condition was first described in Japan and other East Asian countries in patients who were thought to suffer from classical citrullinemia type 1, and was therefore classified as a urea cycle disorder. With an improved understanding of its molecular basis, it became apparent that a defect of citrin is primarily affecting the malate\u2013aspartate shuttle with however multiple secondary effects on many central metabolic pathways including glycolysis, gluconeogenesis, de novo lipogenesis and ureagenesis. In the meantime, it became also clear that CD must be considered as a global disease with patients identified in many parts of the world and affected by <jats:italic>SLC25A13<\/jats:italic> genotypes different from those known in East Asian populations. The present short review summarizes the (hi)story of this complex metabolic condition and tries to explain the relevance of including CD as a differential diagnosis in neonates and infants with cholestasis and in (not only adult) patients with hyperammonemia of unknown origin with subsequent impact on the emergency management.<\/jats:p>","DOI":"10.1002\/jimd.12772","type":"journal-article","created":{"date-parts":[[2024,7,12]],"date-time":"2024-07-12T09:44:21Z","timestamp":1720777461000},"page":"1129-1133","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Citrin deficiency\u2014The East\u2010side story"],"prefix":"10.1002","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0635-091X","authenticated-orcid":false,"given":"Johannes","family":"H\u00e4berle","sequence":"first","affiliation":[{"name":"University Children's Hospital Zurich and Children's Research Center University of Zurich  Zurich 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