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Abstract：
Inherited metabolic diseases account for about one third of pediatric patients with hepatomegaly, acute liver failure, cirrhosis or cholestasis. Specifically for pediatric acute liver failure, they account for 10-15% of cases, with a mortality of 22-65%. The percentage of acute liver failure caused by an inherited metabolic disease in children <2-3 years of age is even higher, ranging from a third to half of all cases. Metabolic liver disease accounts for 8-13% of all pediatric liver transplantations. Despite this high burden of disease, underdiagnosis remains common. We reviewed and updated the list of known metabolic etiologies associated with various types of metabolic liver involvement, and found 142 relevant inborn errors of metabolism. This represents the second of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.
摘要：
遗传性代谢性疾病约占小儿肝肿大患者的三分之一，急性肝功能衰竭,肝硬化或胆汁淤积。特别是小儿急性肝功能衰竭，他们占案件的10-15%，死亡率为22-65%。在<2-3岁的儿童中，由遗传性代谢疾病引起的急性肝衰竭的百分比甚至更高，从所有病例的三分之一到一半不等。代谢性肝病占所有小儿肝移植的8-13％。尽管疾病负担很高，诊断不足仍然很常见。我们回顾并更新了与各种类型的代谢性肝脏受累相关的已知代谢病因列表，发现了142个相关的先天代谢错误。这是一系列文章中的第二篇，试图根据系统参与情况创建和维护临床和代谢鉴别诊断的综合列表。
