Ounap K, Lilleväli H, Metspalu A, Lipping-Sitska M
Medical Genetics Center, Tartu University Children's Hospital, Estonia.
J Med Screen. 1998;5(1):22-3. doi: 10.1136/jms.5.1.22.
To develop the phenylketonuria (PKU) screening programme in Estonia.
All data about patients with PKU, born during 1980-92, were documented to establish its prevalence at birth in Estonia. Newborn screening for the diagnosis and treatment of PKU was started in Estonia in 1993 and the prevalence at birth established by screening. Phenylalanine was determined from filter paper blood by a modified fluorometric method based on enhancement of the fluorescence of a phenylalanine-ninhydrin reaction product by L-leucyl-L-alanine.
During three years (1993-5) 36,074 newborns (85% of the total) were screened for PKU. PKU was diagnosed in six cases during the first four to six weeks of life. All investigated cases could be classified as classical PKU. No cases of mild forms of hyperphenylalaninaemia were diagnosed. The retrospective study showed an average incidence of PKU of 1 in 8090, the prospective study identified a comparable incidence of 1 in 6010 live births.
The prevalence at birth of classic PKU in Estonia is higher than the average in Europe and similar to that of some eastern and middle European countries.
在爱沙尼亚开展苯丙酮尿症（PKU）筛查项目。
记录1980 - 1992年期间出生的PKU患者的所有数据，以确定其在爱沙尼亚的出生患病率。爱沙尼亚于1993年开始进行新生儿PKU筛查以用于诊断和治疗，并通过筛查确定出生患病率。采用一种改良的荧光法，基于L - 亮氨酰 - L - 丙氨酸增强苯丙氨酸 - 茚三酮反应产物的荧光，从滤纸血样中测定苯丙氨酸。
在三年（1993 - 1995年）期间，对36,074名新生儿（占总数的85%）进行了PKU筛查。在出生后的前四至六周内诊断出6例PKU。所有调查的病例均可归类为经典型PKU。未诊断出轻度高苯丙氨酸血症病例。回顾性研究显示PKU的平均发病率为1/8090，前瞻性研究确定在活产中的发病率为1/6010，二者相近。
爱沙尼亚经典型PKU的出生患病率高于欧洲平均水平，与一些中东欧国家相似。
