{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T01:02:33Z","timestamp":1784768553784,"version":"3.55.0"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T00:00:00Z","timestamp":1784678400000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Both citrin deficiency (CD) and citrullinemia type I (CTLN1) may be detected by elevated citrulline through newborn screening (NBS) or present as acute liver failure in later infancy, but they differ significantly in management. This may pose therapeutic challenges in the early period after presentation while awaiting diagnostic confirmation. We report a Chinese girl (birth weight 1.98\u2009kg at 37\u2009weeks) who was recalled on day 5 for elevated citrulline (47\u2009\u03bcmol\/L; cutoff &lt;\u200925) and citrulline\/arginine ratio of 7.34 at NBS on day 2. Citrulline rose to 264\u2009\u03bcmol\/L upon retesting on day 5. Initial investigations revealed INR of 3.4 and raised alkaline phosphatase, while ammonia, conjugated bilirubin, glucose, albumin, gamma\u2010glutamyl transferase, and transaminases were normal. Suspected CTLN1 led to halting protein intake and starting high glucose infusion. Within 17\u2009h, INR increased to 6.5 and albumin dropped. Worsening hepatic function following high\u2010glucose intake and her small for gestation age status suggested CD. She improved rapidly after switching to lactose\u2010free MCT\u2010enriched formula. Genetic analysis revealed compound heterozygous known pathogenic mutations in the\n                    <jats:italic>SLC25A13<\/jats:italic>\n                    gene, confirming the diagnosis of CD. This is the first report of CD presenting with neonatal acute liver failure without cholestasis. It highlights the importance of prompt differentiation between CD and CTLN1 in NBS recalls for safe and effective interim treatment.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.70110","type":"journal-article","created":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T00:36:44Z","timestamp":1784767004000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neonatal Acute Liver Failure due to Citrin Deficiency (\n                    <scp>NALFCD<\/scp>\n                    )"],"prefix":"10.1002","volume":"67","author":[{"given":"Hoi\u2010Yin","family":"Chan","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Hong Kong Children's Hospital  Hong Kong China"},{"name":"Faculty of Medical Sciences Radboud University  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Hong Kong Children's Hospital  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheuk\u2010Wing","family":"Fung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Hong Kong Children's Hospital  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran Moti","family":"Belaramani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Hong Kong Children's Hospital  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe Miu","family":"Mak","sequence":"additional","affiliation":[{"name":"Newborn Screening Laboratory, Department of Pathology Hong Kong Children's Hospital  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Yeung","sequence":"additional","affiliation":[{"name":"Newborn Screening Laboratory, Department of Pathology Hong Kong Children's Hospital  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toby","family":"Chan","sequence":"additional","affiliation":[{"name":"Newborn Screening Laboratory, Department of Pathology Hong Kong Children's Hospital  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Yeung","sequence":"additional","affiliation":[{"name":"Dietetics Team, Integrated Rehabilitation Centre Hong Kong Children's Hospital  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Kwok","sequence":"additional","affiliation":[{"name":"Dietetics Team, Integrated Rehabilitation Centre Hong Kong Children's Hospital  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Mei\u2010Kwun","family":"Kwok","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Hong Kong Children's Hospital  Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,22]]},"reference":[{"issue":"2","key":"e_1_2_11_2_1","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1002\/jpn3.12042","article-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","volume":"78","author":"Inui A.","year":"2024","journal-title":"Journal of Pediatric Gastroenterology and Nutrition"},{"issue":"2","key":"e_1_2_11_3_1","doi-asserted-by":"crossref","first-page":"38","DOI":"10.3390\/ijns10020038","article-title":"Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020\u20102023)","volume":"10","author":"Therrell B. L.","year":"2024","journal-title":"International Journal of Neonatal Screening"},{"key":"e_1_2_11_4_1","doi-asserted-by":"crossref","first-page":"120109","DOI":"10.1016\/j.cca.2024.120109","article-title":"Markedly Elevated Citrulline in a Neonate: Citrin Deficiency due to a Previously Unreported Solute Carrier Family 25 Member 13 Variant","volume":"568","author":"Narasimhan M.","year":"2025","journal-title":"Clinica Chimica Acta"},{"issue":"6","key":"e_1_2_11_5_1","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1002\/jimd.12100","article-title":"Suggested Guidelines for the Diagnosis and Management of Urea Cycle Disorders: First Revision","volume":"42","author":"H\u00e4berle J.","year":"2019","journal-title":"Journal of Inherited Metabolic Disease"},{"issue":"23","key":"e_1_2_11_6_1","doi-asserted-by":"crossref","first-page":"7331","DOI":"10.3748\/wjg.v21.i23.7331","article-title":"Citrin Deficiency Presenting as Acute Liver Failure in an Eight\u2010Month\u2010Old Infant","volume":"21","author":"Zhang M. H.","year":"2015","journal-title":"World Journal of Gastroenterology"},{"key":"e_1_2_11_7_1","doi-asserted-by":"crossref","first-page":"1293356","DOI":"10.3389\/fped.2024.1293356","article-title":"Biochemical Characteristics, Genetic Variants and Treatment Outcomes of 55 Chinese Cases With Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency","volume":"12","author":"Li J.","year":"2024","journal-title":"Frontiers in Pediatrics"},{"issue":"4","key":"e_1_2_11_8_1","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.ymgme.2022.06.007","article-title":"Improved Diagnosis of Citrin Deficiency by Newborn Screening Using a Molecular Second\u2010Tier Test","volume":"136","author":"Chen H. 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