硫胺素转运和激活缺陷及其相关疾病  

Defect of thiamine transport and activation and related disease

作　　者：冼肖英[1] 林发全[1] 

机构地区：[1]广西医科大学第一附属医院检验科,南宁530021

出　　处：《中华医学遗传学杂志》2018年第1期121-124,共4页Chinese Journal of Medical Genetics

摘　　要：硫胺素又称维生素B1，是体内重要的维生素。作为多种酶的辅酶，其活化形式硫胺素焦磷酸（thiamine pyrophosphate，TPP）参与细胞的新陈代谢。硫胺素转运和激活缺陷将导致细胞缺乏硫胺素，影响正常的代谢功能，导致多种疾病。本文就硫胺素转运和激活缺陷及其相关疾病做一综述。Thiamine, also known as form of thiamine pyrophosphate is involved vitamin B1 , is an important vitamin for the body. The activated in cell metabolism as an important coenzyme. Defects of thiamine transport and activation may cause lack of thiamine and affection of cell metabolism, leading a variety of diseases. This review has summarized defects of thiamine transport and activation and related diseases.

关 键 词：硫胺素 转运 激活 缺陷 遗传病 

分 类 号：R363[医药卫生—病理学]