{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T07:20:09Z","timestamp":1774682409504,"version":"3.50.1"},"reference-count":14,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T00:00:00Z","timestamp":1632787200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a rare autosomal recessive disease. The incidence of citrin deficiency is estimated between 1\/10,000 and 1\/20,000 in Taiwan. Case report: This report describes a case of a 42 day old female infant who suffered from prolonged jaundice, poor weight gain, and anemia. The initial total\/direct bilirubin levels were 8.1\/3.11 mg\/dL. Liver biopsy was performed at 47 days old. The pathology revealed lobules marked with macrovesicular and microvesicular fatty metamorphosis. The serum amino acid profile showed elevated levels of threonine, methionine, citrulline, and arginine. Newborn screening disclosed normal results, but the genetic study revealed SLC25A13 mutation 851\u2013854 del and 615 + 5G &gt; A. The genetic study of her parents showed that the father carried the SLC25A13 mutation 851\u2013854 del and the mother carried the SLC25A13 mutation 615 + 5G &gt; A. Treatment with ursodeoxycholic acid decreased the bilirubin levels to a normal range at the age of 5 months. Conclusion: This report illustrates that hepatic steatosis is a feature of NICCD. For every young infant patient who develops cholestasis, the pediatrician must consider NICCD as a differential diagnosis even if newborn screening shows normal findings.<\/jats:p>","DOI":"10.3390\/medicina57101032","type":"journal-article","created":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T21:38:09Z","timestamp":1632865089000},"page":"1032","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with SLC25A13 Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report"],"prefix":"10.3390","volume":"57","author":[{"given":"Shu-Wei","family":"Hu","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Tungs\u2019 Taichung MetroHarbor Hospital, No. 699, Sec. 8, Taiwan Blvd., Wuqi Dist., Taichung City 435403, Taiwan"},{"name":"Department of Pediatric Gastroenterology, China Medical University Children\u2019s Hospital, No. 2, Yude Rd., North Dist., Taichung City 404327, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen-Li","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatric Endocrinology, China Medical University Children\u2019s Hospital, No. 2, Yude Rd., North Dist., Taichung City 404327, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I-Ping","family":"Chiang","sequence":"additional","affiliation":[{"name":"Division of Oncology, Department of Pathology, China Medical University Hospital No. 2, Yude Rd., North Dist., Taichung City 404327, Taiwan"},{"name":"School of Medicine, College of Medicine, China Medical University, No. 91, Xueshi Rd., North Dist., Taichung City 404328, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu-Fen","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, China Medical University Children\u2019s Hospital, No. 2, Yude Rd., North Dist., Taichung City 404327, Taiwan"},{"name":"School of Medicine, College of Medicine, China Medical University, No. 91, Xueshi Rd., North Dist., Taichung City 404328, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0395-6123","authenticated-orcid":false,"given":"Chung-Hsing","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatric Endocrinology, China Medical University Children\u2019s Hospital, No. 2, Yude Rd., North Dist., Taichung City 404327, Taiwan"},{"name":"School of Medicine, College of Medicine, China Medical University, No. 91, Xueshi Rd., North Dist., Taichung City 404328, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"An-Chyi","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, China Medical University Children\u2019s Hospital, No. 2, Yude Rd., North Dist., Taichung City 404327, Taiwan"},{"name":"School of Medicine, College of Medicine, China Medical University, No. 91, Xueshi Rd., North Dist., Taichung City 404328, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.hepres.2005.09.031","article-title":"Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier","volume":"33","author":"Saheki","year":"2005","journal-title":"Hepatol. 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