Can Med Assoc J. 1976 Sep 18;115(6):509-12.
Since mass screening of the newborn population for phenylketonuria (PKU) by the Guthrie test was begun in Ontario in July 1965 many variants of PKU have been recognized in the 96 to 97% screened. Seventy-one cases of classic PKU were detected (four were missed). Of 48 cases of persistent hyperphenylalaninemia discovered, 18 were classified as atypical PKU and 30 as persistent benign hyperphenylalaninemia. Numerous infants with transient hyperphenylalaninemia (initial values over 10 mg/dl in 12), in many instances the result of transient neonatal tyrosinemia, were discovered. There was a slight predominance of males. Serum phenylalanine values of up to 15 mg/dl seemed to be harmless to the developing brain. A survey of 67 247 adults in the general population revealed 1 person with PKU and 1 with persistent benign hyperphenylalaninemia; both had normal intelligence quotients. Of 1548 mothers of retarded children tested, none had hyperphenylalaninemia.
自1965年7月安大略省开始通过古思里试验对新生儿群体进行苯丙酮尿症（PKU）大规模筛查以来，在96%至97%接受筛查的人群中已识别出许多PKU变体。检测到71例典型PKU病例（漏检4例）。在发现的48例持续性高苯丙氨酸血症病例中，18例被归类为非典型PKU，30例为持续性良性高苯丙氨酸血症。发现了许多患有短暂性高苯丙氨酸血症的婴儿（12例初始值超过10mg/dl），在许多情况下是短暂性新生儿酪氨酸血症的结果。男性略占多数。血清苯丙氨酸值高达15mg/dl似乎对发育中的大脑无害。对普通人群中67247名成年人的调查显示，有1人患有PKU，1人患有持续性良性高苯丙氨酸血症；两人智商均正常。在接受检测的1548名智障儿童母亲中，无人患有高苯丙氨酸血症。
