本文总结了苯丙酮尿症（PKU）12例的主要临床表现，指出诊断该病应注意病史，初生良好，3－5个月起病，多有智能减退、婴儿痉挛症、运动落后、进行性加重、体征均有头发皮肤色素减退，体臭尿臭，EEC以高峰节律紊乱最多，其次为高幅慢节律，头颅CT多数正常，强调早期治疗，严格控制饮食中苯丙氨酸含量，控制癫痫发作，适当应用脑细胞活化剂，治疗晚者留下智能低下较普遍。 This article summarizes the main clinical manifestations of 12 cases of phenylketonuria (PKU), pointed out that the diagnosis of the disease should pay attention to the history of good at birth, 3-5 months of onset, more than a smart decline, infantile spasms, backwardness, progressive Exacerbations, signs of skin pigmentation, body odor stink, EEC to peak rhythm disorders, followed by high amplitude slow rhythm, most of the normal skull CT, emphasizing early treatment, strict control of dietary phenylalanine content, control of seizures , Appropriate application of brain cell activators, the treatment of late left low intelligence is more common.