遗传性苯丙氨酸羟化酶(降解苯丙氨酸的酶)缺损是临床苯丙酮尿症(PKU)的病因。PKU的典型症状是循环中苯丙氨酸水平升高。神经精神紊乱如精神迟钝,精神混乱和兴奋增盛的程度与血中苯丙氨酸量相关。也有报导妊娠时循环中苯丙氨酸会增高,导致遗传上正常的儿童发生精神迟缓,因 Hereditary phenylalanine hydroxylase (phenylalanine-degrading enzyme) deficiency is the etiology of clinical phenylketonuria (PKU). A typical symptom of PKU is an increase in circulating phenylalanine levels. Neuropsychiatric disorders, such as mental retardation, confusion and excitement, are related to the amount of phenylalanine in the blood. It has also been reported that circulating phenylalanine during pregnancy increases, resulting in genetically normal children with mental retardation due to