苯丙酮尿症为常染色体隐性遗传性疾病。国内自1963年始有个别报道,我们最近见到一家兄弟两人均患此病,现报告如下。例1:李×,男性,7个月。因喉鸣3月余,咳嗽一个月,近2～3天加重,于1978年3月24日入院。入院发现患儿智力明显落后于年龄。询问病史,系第二胎足月顺产,母孕期腱康,母乳喂养。生后如一般正常新生儿,但生后2～3月起发现两眼呆滞,斜视,不会笑,不认人。6个月起常哭闹,头常后仰,无多汗,不流涎。近2月来患儿尿布可闻到鼠尿样臭味,生后面部常患湿疹。近3个月来肢体时而有小抽动。父母均健康,非近亲结婚。其兄23个月尚不会坐,不认人。体格检查,营养中等,体重7公斤,身长60厘 Phenylketonuria is an autosomal recessive disease. Since 1963, there have been a few reports in our country. Recently, we saw that both brothers and two were suffering from the disease. The report is as follows. Example 1: Lee ×, male, 7 months. Due to throat more than 3 months, cough for a month, nearly 2 to 3 days to increase, in March 24, 1978 admission. Admission found that children’s mental retardation significantly behind age. Asked the medical history, Department of full-term second-term birth of the fetus, tendon Kang during pregnancy, breastfeeding. After birth as a normal newborn, but after birth 2 to 3 months found that his eyes dull, strabismus, will not laugh, do not recognize people. 6 months often crying, head often back, no sweating, no salivation. Nearly two months to children with diapers can smell the smell of rat urine, students often suffer from facial eczema. Nearly three months to physically twitch limbs. Parents are healthy, non-relatives get married. His brother 23 months will not sit, do not recognize people. Physical examination, moderate nutrition, weight 7 kg, length 60%