Abstract: Objective To investigate the clinical and laboratory features, gene mutations and prognosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Methods Six NICCD patients diagnosed by gene detection from January 2017 to December 2019 in our department were enrolled. Clinical data of these patients were collected and analyzed. Results The average birth weight of the 6 patients was 2.95 kg, and all of them experienced disease onset in infant period. The chief complaints were repeated jaundice (4/6), growth retardation (1/6) and abdominal distension (1/6). Laboratory data showed that all the 6 patients had increased aspartate aminotransferase, γ-glutamyl transferase, alkaline phosphatase, total bilirubin, direct bilirubin and total bile acid. Most had increased alanine aminotransferase (3/6), increased lactic acid (2/2), increased alphafetoprotein (3/3), decreased albumin (1/6) and prolonged activated partial thromboplastin time (2/4). Mutations were found in SLC25A13 gene, which included c.852-855del, c.615+5G>A, c.1177+1G>A, IVS16ins3kb, c.1362C>G, 1210G>T, and c.1660-c.1661insGAGATTACAGGTGGCTGCCCGGG. After feeding with lactose-free and medium-chain triglyceride-rich formula, liver function improved 24 days later and normalized completely within 1 year in 5 of the infants. Another case had cirrhosis, ascites and liver failure, accompanied by infection at first visit and finally gave up treatment. The average follow-up age was 1 year and 9 months. All of them had the preference for a high protein and high fat diet. Conclusion NICCD should be taken into account in the etiology of infant cholestasis. Early visit and early genetic testing are helpful in early diagnosis. Most Children with NICCD have good prognosis after diet intervention, and long-term follow-up is required.

Key words: Citrin deficiency, Neonatal intrahepatic cholestasis