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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。
From October 1981 to December 1995, we screened PKU for 600,000 newborns born in some hospitals in Shanghai. A total of 35 positive cases were detected, with a prevalence of 1 / 17178 (35/601218). 33 cases were diagnosed as classical PKU, and the other 2 cases were diagnosed as BH_4deficiency. All PKU patients (except 1) started treatment with low-phenylalanine milk formula 32 ± 16 days after birth and achieved a significant therapeutic effect. In the follow-up of children with PKU in this group found that the vast majority of children before the age of 2, the concentration of phenylalanine (phenylalanine, Phe) control in the ideal range (4-10mg / dl), IQ is normal; 2 After the age of his blood phenylalanine concentrations often exceed 10mg / dl, IQ decreased significantly. The authors compared the analysis and to improve the clinical management of PKU positive cases made a preliminary study.