脳障害と治療

概要

Vitamin Transport Diseases of Brain: Focus on Folates, Thiamine and Riboflavin

Reynold Spector

Background: In the last decade, childhood neurological disorders involving inadequate transport of thiamine, riboflavin or folates into brain have been defined. These involve two transporters of folate (the folate receptor α or the proton-coupled folate transporter), one of thiamine and two of the six riboflavin transporters. Depending on the mutations involved, without a specific diagnosis and treatment, the phenotypes vary from mild to severe and fatal.