先天性代谢缺陷的概念首由 Garrod 氏(1908)提出,他指出白化症、尿黑酸症、胱氨酸尿症和戊糖尿症四种疾病是遗传性代谢缺陷疾病。半世纪以来,关于这方面的知识有很大的进展,夏益荣的“先天性代谢缺陷”一书中列举了84种疾病。近几年来,又发现了不少疾患,估计总数在100种以上。本文对近年来先天性代谢缺陷的若 The concept of congenital metabolic defects first proposed by Garrod’s (1908), he pointed out that albinism, acidosis, cystinuria and pentoxyuria four diseases are inherited metabolic defects. Since half a century, great progress has been made in this respect. Xia Yirong’s book, “Congenital Metabolic Defects,” lists 84 diseases. In recent years, many diseases have been discovered, with an estimated total of more than 100 species. This article on congenital metabolic defects in recent years