苯丙酮尿症及其治疗方法的分子机制研究进展  

Advances in research of molecular mechanism of phenyiketonuria and its treatments

作　　者：刘宾[1] 方竞 杨晓林[3] 孙旭东[1] 

机构地区：[1]北京大学工学院生物医学工程系,100871 [2]北京源德生物医学工程有限公司,100176 [3]北京大学人民医院,100044

出　　处：《国际生物医学工程杂志》2012年第4期238-241,246,共5页International Journal of Biomedical Engineering

摘　　要：苯丙酮尿症（PKU）是一种严重的常染色体隐性遗传疾病，会对患者神经系统造成不可逆损伤。虽然低苯丙氨酸（Phe）饮食能够实现对PKU的有效控制，但患者反应能力和执行能力仍低于正常人，并且严格的低Phe饮食控制难以终身实行。因此，PKU的基因工程、酶替补、四氢生物蝶呤（BH。）、大量中性氨基酸（LNAA）、肝脏移植等新疗法的相关研究Et益深入和发展，低Phe饮食控制疗法也被进行了改进。针对PKU的致病机理和治疗方法相关分子机制的最新研究进展进行综述。Phenylketonuria （PKU） is a severe autosomal recessive disease which can cause irreversible damage to patients＇ neural system and results in severe mental retardation. Although the institution of a low- phenylalanine （Phe） diet has been a remarkable success in preventing the devastating damage associated with untreated PKU, there are always small but consistent gap in intelligence quotient （IQ） scores and executive functioning when compared to siblings or healthy age-related control groups. During the past few years, several types of new treatment strategies, such as genetic engineering, enzyme replacement, tetrahydrobiopterin （BH4）, large neutral amino acids （LNAA）, low-Phe diet and liver or liver cell transplantation therapies, have been studied and improved. This paper aims to introduce the research advances in pathogenesis of PKU, the treatment methods and the related molecular mechanism.

关 键 词：苯丙酮尿症 基因工程 苯丙氨酸羟化酶 苯丙氨酸氨裂解酶 

分 类 号：R725.8[医药卫生—儿科]