摘要
苯丙酮尿症是我国新生儿筛查主要病种之一,目前临床上多采用血苯丙氨酸浓度来进行疾病筛查。过多的苯丙氨酸及其旁路代谢产物可经尿液排出,因此苯丙酮尿症患儿尿液生物标志物检测可用于苯丙酮尿症的筛查和监测,其标本采集简便且具有无创性,本文综述了苯丙酮尿症患儿的体内的生物代谢及其尿液中生物标志物检测的研究进展。
Phenylketonuria is one of the major neonatal screening diseases in China, and current clinical screening of phenylke- tonuria is based on blood phenylalanine concentration. Superabundant phenylalanine and other bypass metabolites can be excreted in the urine; and hence, detecting biomarkers in the urine can be used for the neonatal screening and monitoring of phenylke- tonuria, with an advantage of the easy and non - invasive sample collecting. This paper reviews the biological metabolism of phenylalanine and the research progress of biomarkers in the urine.
出处
《实用预防医学》
CAS
2016年第5期638-640,F0003,共4页
Practical Preventive Medicine
基金
湖南省工程技术研究组建计划项目(编号:湘科计字[2013]83号)
