Abstract: Objective The aim of this study was to summarize the clinical features and gene mutation in patients with inherited metabolic liver diseases (IMLD). Methods 16 patients with IMLD were encountered in five tertiary hospital in Luoyang between 2000 and 2021, and the clinical materials and gene sequencing were reviewed retrospectively. Results Out of the 16 patients with IMLD, 10 were male and 6 were female, with the average age of(26±15)yr at presentation, including metal metabolic disorders in 8 cases (Wilson's disease in 7, hereditary haemochromatosis in 1), hereditary hyperbilirubinemias in 3 (Gilbert syndrome in 2, Dubin-Johnson syndrome in 1), hereditary cholestasis in 4 [benign recurrent intrahepatic cholestasis (BRIC) in 2, Alagille syndrome in 1 and Citrin deficiency 1 case) and glycogen storage disease in 1 case; 7 patients with Wilson's disease were from 4 families mainly with ATP7B mutation and the patients with hereditary haemochromatosis had HFE mutation, Gilbert syndrome had UGT1A1 mutation, Dubin-Johnson syndrome had ABCC2 mutation, BRIC had ATP8B1 mutation, Alagille syndrome had JAG1 mutation, Citrin deficiency had SLC25A13 mutation and glycogen storage disease had G6Pase mutation. Conclusion The Wilson's disease is common in patients with IMLD, and the diagnosis depends greatly on the clinical materials and gene sequencing.

Key words: Inherited metabolic liver disease, Clinical feature, Gene sequencing