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 Î± or the proton-coupled folate transporter), one of thiamine and two of the six riboflavin transporters. The brain barrier transport and, in series, the cellular transport systems (on the other side of the BBB and BCSFB), provide impressive control of entry of the transported vitamer (the moiety of the vitamin transported) into brain cells. Thus explaining the notion of âpenetranceâ i.e., the variability of signs and symptoms and age of onset. Of course, in these vitamin transport disorders, physicians generally diagnose only those persons with deleterious mutations in both chromosomes â called autosomal recessive inheritance. The history of the discovery of the vitamin transport diseases of brain sheds light on the proper diagnosis and treatment of these disorders, and where crucial knowledge is incomplete. In summary, impressive progress has been made in the understanding of the vitamin transport disorders of folates, T and R (as opposed to deficiency disorders) with the ability to diagnose andtreat and, in some cases, prevent these disorders.
Reynold Spector, Vitamin Transport Diseases of Brain: Focus on Folates, Thiamine and Riboflavin
Last date updated on November, 2020