Abstract: Genetic metabolic liver disease is a rare disease with many types and common populations. Early clinical manifestations are similar to those of hepatitis and are without specificity. Routine examination can hardly provide a confirmed diagnosis and is likely to lead to misdiagnosis. Therefore，in clinical practice，liver diseases of unknown causes should be identified early，special examination should be conducted as early as possible，and early diagnosis and early treatment should be made to avoid the progression of liver diseases.

Key words: genetic&ensp, metabolic&ensp, liver&ensp, disease；genes；hepatitis；misdiagnosis

摘要： 遗传代谢性肝病为罕见病，种类多，总体患病人群并不少。早期临床表现与肝炎相似无特异性，常规检查难以确诊，易导致误诊。因此，临床上应从不明原因的肝病中早期识别这类疾病，及早行特殊检查，早诊断、早治疗，避免肝病进展。

关键词: 遗传代谢性肝病, 基因, 肝炎, 误诊