先天性代谢病(Inborn erorrs of metabolism)是指人体内由于酶的遗传性缺陷而产生的疾病。酶也是一种蛋白质,所以先天性代谢病也是一种分子病。但是由于酶是人体内生化反应的催化剂,酶的异常或缺乏往往表现为代谢的紊乱而引起的代谢病,所以称为先天性代谢病。从分子水平来看,酶合成的缺陷,可能有两种原因:(1)由于 Inborn erorrs of metabolism is a disease in the human body caused by a genetic defect in the enzyme. Enzyme is also a protein, so congenital metabolic disease is also a molecular disease. However, since enzymes are catalysts for biochemical reactions in the human body, abnormal or lack of enzymes often manifest as metabolic diseases caused by metabolic disorders and are therefore referred to as congenital metabolic diseases. At the molecular level, the defects of enzyme synthesis may be due to two reasons: (1) due to