先天性代谢缺陷是指遗传性的酶缺陷所致的疾病。迄今已发现一千多种,绝大多数是稀有疾病。先天性代谢缺陷的概念是在本世纪初由Garrod提出的,他通过对黑酸尿症、白化病、胱氨酸尿症和戊糖尿症的观察,指出这些疾病是由于控制某一代谢步骤的酶活力减退或缺失,导致代谢阻滞的结果。1952年,Cori等发现了一种糖元累积病(von Gierke氏病)的病人肝脏缺乏葡萄糖—6—磷酸酶,第一次证实了先天性代谢缺陷是由于某种酶生物合成的遗传缺陷所致。以后对酶缺陷的研究日趋深入,至今有130多种先天性代谢缺陷已弄清了酶缺陷的情况。通过对先天性代谢缺陷的研究,可以 Inborn errors of metabolism are diseases caused by inherited enzyme defects. So far, more than a thousand species have been found, the vast majority of which are rare diseases. The concept of congenital metabolic defects was proposed by Garrod at the beginning of this century. He observed that black acidurias, albinism, cystinuria, and pentobalamin were responsible for these diseases due to enzymes that control a metabolic step Decreased or absent vitality, leading to metabolic block results. In 1952, Cori et al. Found a lack of glucose-6-phosphatase in the liver of a patient with glycogen storage disease (von Gierke’s disease), confirming for the first time that inborn errors of metabolism were due to a genetic defect in the biosynthesis of an enzyme To Since then, more and more studies have been carried out on the enzyme defects. Up to now, over 130 kinds of congenital metabolic defects have clarified the enzyme defects. Through the study of congenital metabolic defects, can