【摘要】 从１９８１年１０月至１９９５年１２月，我室对在上海部分医院出生的６０万新生儿进行了苯丙酮尿症（ＰＫＵ）的筛查，共查出３５个阳性病例，发病率为１／１７１７８（３５／６０１２１８）。３３例确诊为经典型ＰＫＵ，另２例确诊为四氢生物喋呤缺乏症（ＢＨ＿４ｄｅｆｉｃｉｅｎｃｙ）．所有ＰＫＵ患者（除１例外）均在生后３２±１６天开始接受低苯丙氨酸奶方的治疗，取得了显著的疗效．在对本组ＰＫＵ患儿的随访中发现，绝大部分患儿２岁以前的血苯丙氨酸（ｐｈｅｎｙｌａｌａｎｉｎｅ，Ｐｈｅ）浓度控制在较理想的范围内（４－１０ｍｇ／ｄｌ），智商正常；２岁以后其血苯丙氨酸浓度常常超过１０ｍｇ／ｄｌ，智商明显下降。作者对比作了分析并就完善ＰＫＵ筛查阳性病例的临床管理作了初步探讨。更多还原

【Abstract】 Since October 1981,about 600000 neonates born in Shanghai have been screened for phenylketonuria(PKU)in our laboratory.The number of positive cases is 35.The incidence is 1/17178(35/601218).33 cases were finally diagnosed as classical PKU and 2 cases as BH4 deficiency.All PKU cases,except one,have started treatment with lowphenylalanine(Phe)formula 32±16 days after birth and obtained satisfactory effect.The followup of these PKU kids showed that the concentration of Phe were well controlled before the age of 2 and most of them had normal IQ.After the first 2 years,their Phe level fluctuated and were always above the ideal therapeutic range and IQ declined.We would analyse,causes and try to discuss the improvement of the clinical management of positive cases screened for PKU.更多还原