Metabolic liver disease is one of the etiological causes of liver damage in children. Because of its complex clinical manifestations and the limitations of conventional diagnostic methods, it is difficult to make definite diagnosis in early stage. The progress of diagnostic technologies in recent years has laid a foundation for early diagnosis of the disease. Through appropriate diet or drug therapy, good prognosis will be achieved if definite diagnosis is made early. So the prevention of metabolic liver disease in children should be paid much attention, and meanwhile basic and clinical research should be strengthened, so as to provide new techniques and methods for the diagnosis and treatment of the disease.