土耳其是一个介于欧亚洲之间的发展中国家,近亲结婚在该国较普遍,可预计常染色体隐性遗传表现率较高。最近,在下列四组儿童中进行了遗传代谢病的调查 (1)高风险的新生儿和婴儿 (2)有运动和智力障碍的儿童 (3)小学生(检查胱氨酸尿症) (4)正常新生儿(检查苯丙酮尿症) 划分高风险儿童的症状有:喂养困难, Turkey is a developing country between Europe and Asia. Marriage of close relatives is more common in the country and higher autosomal recessive genetic performance is expected. Recently, investigations of genetic metabolic diseases were carried out in the following four groups of children: (1) high-risk neonates and infants (2) children with motor and mental disorders (3) pupils (cystineuria test) (4) Symptoms of a normal newborn (checking for phenylketonuria) in high-risk children include: difficulty feeding,