Defect of thiamine transport and activation and related disease / 中华医学遗传学杂志

ABSTRACT

Thiamine, also known as vitamin B1, is an important vitamin for the body. The activated form of thiamine pyrophosphate is involved in cell metabolism as an important co-enzyme. 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.