苯丙酮尿症(PKU)是小儿时期由于先天性氨基酸代谢障碍所引起的一种疾病,属于常染色体隐性遗传病。典型病人肝内缺乏苯丙氨酸羟化酶,以致苯丙氨酸(PA)不能正常代谢,使大量的PA 及苯丙酮酸在体内堆积,引起中枢神经系统损害,而致智能落后。本病自1934年Folling 发现后各国均有报道,其发病率美国为1:1.2万～1:1.8万;苏格兰为1:5000～1:6000;芬兰为1:30万;以色列为1:1.9万;日本为1:3万～1:5万。我国各地区 Phenylketonuria (PKU) is a disorder caused by congenital amino acid metabolism in infancy and belongs to autosomal recessive disease. Typical patients lack the liver phenylalanine hydroxylase, so that phenylalanine (PA) can not be normal metabolism, so that a large number of PA and phenylpyruvate accumulation in the body, causing damage to the central nervous system, resulting in smart backward. The disease has been reported in all countries since Folling was discovered in 1934 in the United States, with the incidence of 1: 1.2-1.8: 1: 18,000 in the United States, 1: 5000-1: 6000 in Scotland, 1: 300,000 in Finland, 1: 1.9 in Israel 10,000; Japan is 1: 30,000 to 1: 50,000. All regions of our country