苯丙酮尿症(PKU)是一种严重的遗传性代谢病。患者由于苯丙氨酸羟化酶(PAH)基因缺陷,使肝细胞不能合成PAH。体内的苯丙氨酸不能正常地进行代谢,一部分转化为苯丙酮酸从尿中排出,一部分则累积在体内,使血清中苯丙氨酸的浓度增高,引起脑损害及严重的智力发育障碍。患儿在出生后,若不及时确诊并给予低苯丙氨酸饮食治疗,就会导致痴呆。苯丙酮尿症在我国的发病率为1/16000,大约每65人中就有—个 Phenylketonuria (PKU) is a serious hereditary metabolic disease. Patients due to phenylalanine hydroxylase (PAH) gene defects, so that the liver cells can not synthesize PAH. Phenylalanine body can not be normal metabolism, part of the conversion into phenylpyruvate excreted from the urine, some are accumulated in the body, the serum phenylalanine concentration increased, causing brain damage and severe mental retardation. Children born, if not diagnosed and given low-phenylalanine diet, can lead to dementia. The incidence of phenylketonuria in our country is 1/16000, about one out of every 65 people