Abstract: Objective To explore the etiology of inherited metabolic liver disease. Method The clinical data of inherited metabolic liver disease in children admitted from January 2013 to December 2019 were retrospectively analyzed. Results A total of 330 (205 males and 125 females) children with inherited metabolic liver disease were enrolled and the onset age ranged from 1 month to 14 years. The etiology of the disease includes more than 50 causes, ordered from Citrin deficiency disease ( 120 cases, 36. 36%), Wilson disease (WD, 53 cases, 16. 06%), glycogen storage disease (GSD, 52 cases, 15. 76%), hereditary hyperbilirubinemia ( 25 cases, 7 . 58 %), Alagille syndrome ( 16 cases, 4 . 85 %) and progressive familial intrahepatic cholestasis (PFIC, 10 cases, 3. 03%), etc. Cholestasis and elevated transaminase were the main initial manifestations in the children, including 188 cases of cholestasis (56.97%) and 127 cases of elevated transaminase (38.48%). There were 181 children (54.85%) with onset age of less than 1 year and they mainly had Citrin deficiency disease ( 120 cases), glycogen storage disease ( 10 cases), PFIC (7 cases), Alagille syndrome (7 cases) and Dubin-Johnson syndrome (6 cases). There were 149 cases (45.15%) with onset age of 1 year or above, in which there were 42 cases of GSD and 52 cases of WD. Conclusion The etiology of inherited metabolic liver disease is complex, and the age at onset and clinical manifestations should be combined for clinical diagnosis and analysis.

Key words: inherited metabolic liver disease; etiology; clinical manifestation; child