罕见先天性代谢异常疾病分析  

Analysis of Rare Congenital Metabolic Disorders

作　　者：宋海[1] 谢冰洁 徐江平[2] Song Hal;Xie Bingjie;Xu Jiangping(Tangshan people hospital Hebei Province, Tangshan Hebei, 063001;Southern medical university, Guangzhou Guangdong, 510515)

机构地区：[1]河北省唐山市人民医院,河北唐山063001 [2]南方医科大学药学院,广东广州510515

出　　处：《生命科学仪器》2017年第5期15-18,63,共5页Life Science Instruments

基　　金：广东省科技计划(2015B090903067);广东省科技计划项目(No.2012B050500005)

摘　　要：先天性代谢异常(Inborn Error Metabolism,IEM)是指由于基因突变,使得参与体内代谢的某种酶、转运蛋白、膜或受体功能异常,从而导致机体代谢紊乱而引发的一类疾病。依据罕见病伙伴数据库,本文对70种罕见性先天性代谢异常疾病的分类、诊断方法及治疗手段进行综述。分析发现:在这70种疾病中,21%的疾病通过饮食控制得到缓解;42%的疾病通过药物治疗取得一定程度的治疗效果;目前,仅约1%的疾病有望借助基因疗法,得以根治;其余约23%的疾病目前仍无有效的治疗方法。Inborn Error Metabolism（IEM） refers to a class of diseases leading to the metabolic disorder, which is due to the defects of single genes that code for certain enzymes, transporters, membrane or receptor. This paper reviewed the classification, diagnostic methods and treatments of 70 kinds of common congenital metabolic abnormalities.The results showed that 21% IEM were alleviated by the dietary restriction, and 42% IEM had a good response to drug treatments. In the meantime, the gene therapy, expected to cure the diseases caused by the defects of enzymes fundamentally, could treat 1% IEM. In addition, about 23% IEM was still no effective treatment.

关 键 词：先天性代谢异常 分类 诊断 治疗 

分 类 号：R58[医药卫生—内分泌]