苯丙酮尿症是常见的先天性代谢性疾病。估计群体的发病率约1:16000。本病注意预防及早期饮食治疗,能使患儿智力发育水平在正常范围,而未经治疗者将绝大多数变为白痴。为此,临床上正确认识这类患者,甚为重要。为引起同道重视,现将我院于半年内发现来自二个家族三例苯丙酮尿症报告如下,并简要讨论。 Phenylketonuria is a common congenital metabolic disease. The estimated incidence of the group is about 1: 16000. The disease pay attention to prevention and early diet, can make children’s mental development in the normal range, while the vast majority of untreated will become an idiot. To this end, clinically correct understanding of such patients is very important. To arouse the same importance, now our hospital found in six months from three families phenylketonuria two families reported the following, and briefly discussed.