先天性代谢缺陷引起的疾病近一千种,如氨基酸代谢病就达八十多种,其中苯丙氨酸代谢病是人们研究最早最多的一种。苯丙氨酸是人体的“必需氨基酸”之一,在苯丙氨酸代谢过程中,不同阶段、不同酶的缺乏,可引起多种先天性代谢缺陷。患病个体多为近亲婚配所生的子女,故了解本病有关知识,进行宣传和筛选普查,对于杜绝遗传性疾病的再现,保证一对夫妇只生一个健康、聪明的孩子,做好计划生育工作,具有重要意义。在苯丙氨酸代谢病中,重要的有苯丙酮尿症、白化症、黑酸尿症三种,现概述如下: Inborn errors of metabolism caused by nearly a thousand kinds of diseases, such as amino acid metabolism up to more than 80 kinds, of which phenylalanine metabolic disease is one of the earliest studies. Phenylalanine is one of the “essential amino acids” of the human body. In the process of phenylalanine metabolism, different phases and lack of different enzymes can cause many kinds of congenital metabolic defects. Affected individuals are mostly children born of relatives and relatives, so it is necessary to know about the disease, to publicize and screen the census, to prevent reproduction of hereditary diseases, to ensure that a couple can only have one healthy and clever child and have family planning Work, is of great significance. Phenylalanine metabolic disease, the important phenylketonuria, albinism, black aciduria three are summarized as follows: