{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T21:34:15Z","timestamp":1791408855444,"version":"4.3.3"},"reference-count":52,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,12,10]],"date-time":"2023-12-10T00:00:00Z","timestamp":1702166400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Citrin deficiency is an autosomal recessive metabolic liver disease caused by mutations in the\n                    <jats:italic>SLC25A13<\/jats:italic>\n                    gene. The disease typically presents with cholestasis, elevated liver enzymes, hyperammonemia, hypercitrullinemia, and fatty liver in young infants, resulting in a phenotype known as \u201cneonatal intrahepatic cholestasis caused by citrin deficiency\u201d (NICCD). The diagnosis relies on clinical manifestation, biochemical evidence of hypercitrullinemia, and identifying mutations in the\n                    <jats:italic>SLC25A13<\/jats:italic>\n                    gene. Several common mutations have been found in patients of East Asian background. The mainstay treatment is nutritional therapy in early infancy utilizing a lactose\u2010free and medium\u2010chain triglyceride formula. This approach leads to the majority of patients recovering liver function by 1 year of age. Some patients may remain asymptomatic or undiagnosed, but a small proportion of cases can progress to cirrhosis and liver failure, necessitating liver transplantation. Recently, advancements in newborn screening methods have improved the age of diagnosis. Early diagnosis and timely management improve patient outcomes. Further studies are needed to elucidate the long\u2010term follow\u2010up of NICCD patients into adolescence and adulthood.\n                  <\/jats:p>","DOI":"10.1002\/jpn3.12042","type":"journal-article","created":{"date-parts":[[2023,12,16]],"date-time":"2023-12-16T04:21:52Z","timestamp":1702700512000},"page":"178-187","source":"Crossref","is-referenced-by-count":17,"title":["Update on the diagnosis and management of neonatal intrahepatic cholestasis caused by citrin deficiency: Expert review on behalf of the Asian Pan\u2010Pacific Society for Pediatric Gastroenterology, Hepatology, and Nutrition"],"prefix":"10.1002","volume":"78","author":[{"given":"Ayano","family":"Inui","sequence":"first","affiliation":[{"name":"Department of Pediatric Hepatology and Gastroenterology Saiseikai Yokohamshi Tobu Hospital Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae Sung","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Voranush","family":"Chongsrisawat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Chulalongkorn University and King Chulalongkorn Memorial Hospital Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anupam","family":"Sibal","sequence":"additional","affiliation":[{"name":"Indraprastha Apollo Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Winita","family":"Hardikar","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Royal Children's Hospital Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei\u2010Hwei","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics National Taiwan University College of Medicine and Children's Hospital Taipei 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