Inherited metabolic liver disease is a kind of metabolic disorders caused by the interactions between host and environmental factors because of genetic defects. The incidence of inherited metabolic liver disease is low and its clinical manifestations are complex and diverse, which initiates difficulties in clinical diagnosis. In addition, hereditary hemochromatosis and Wilson's disease are common types of metabolic abnormalities, often seem in clinical practice, and early diagnosis and treatment can improve the prognosis. Benign recurrent intrahepatic cholestasis in cholestatic liver disease is a benign phenotype of progressive familial intrahepatic cholestasis and progressive familial intrahepatic cholestasis type 3 can progress to adulthood with a poor outcome. The incidence of Gilbert's syndrome is higher in congenital metabolic diseases, and the prognosis is good in absence of special treatment but most importantly, it should be differentiated from Crigler-Najjar syndrome and Dubin-Johnson syndrome. Presently the general characteristic of inherited metabolic liver disease in Chinese population is still vague.
遗传代谢性肝病是一类在基因缺陷的基础上，由宿主因素与环境因素相互作用而导致代谢异常的疾病。遗传代谢性肝病发病率较低，临床表现复杂多样，是临床诊断的难点之一。遗传性血色病和肝豆状核变性是金属类代谢异常的常见类型，临床上较为常见，早期诊断和治疗，可改善预后。胆汁淤积性肝病中良性复发性肝内胆汁淤积为进行性家族性肝内胆汁淤积良性表型，进行性家族性肝内胆汁淤积3型可发展至成人期，预后较差。先天性胆红素代谢异常中Gilbert综合征发病率较高，预后较好、无需特殊治疗，需与Crigler-Najjar综合征及Dubin-Johnson综合征相鉴别。目前遗传代谢性肝病在我国人群的总体特征仍不明确，尚需进一步研究。.
Keywords: Cholestasis; Hepatolenticular degeneration; Heredity; Metabolism.