苯丙酮尿症的临床实践指南

Clinical practice guidelines for phenylketonuria

苯丙酮尿症为常染色体隐性遗传病,是常见的氨基酸代谢异常之一,在中国的平均发病率约为1/11000,表现为南方地区低、北方(尤其是西北地区)高的特征。苯丙酮尿症是可以治疗的遗传病,被列为中国新生儿筛查疾病之一。经筛查确诊的新生儿通过及时控制苯丙氨酸的摄人可以达到满意的治疗效果。本指南旨在总结关于苯丙酮尿症的医学遗传学知识和临床处置要点,以提高临床人员对该病的诊断水平、规范开展新生儿筛査,对患者临床管理的规范化提供建议。

Phenylketonuria(PKU)is an autosomal recessive hereditary disease and a common disorder of amino acid metabolism.The average incidence of PK1I in China is approximately 1/11000.It is characterized by lower incidence in the South and higher incidence in the North,particularly the Northwest.PKU is a treatable disease and has been listed in the national newborn screening program.Neonates with positive indication of screening can achieve satisfactory therapeutic effect by timely control of phenylalanine intake after the definite diagnosis.This guideline aims to summarize the knowledge of medical genetics and key points of clinical management of PKU.so as to improve the diagnostic level and standardize newborn screening and clinical treatment of patients.