Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency

B vitamins act as cofactors for strategic metabolic processes. The SLC19 gene family of solute carriers has a significant structural similarity, transporting substrates with different structure and ionic charge. Three proteins of this family are expressed ubiquitously and mediate the transport of two important water-soluble vitamins, folate and thiamine. SLC19A1 transports folate and SLC19A2 and SLC19A3 transports thiamine. PCFT and FOLR1ensure intestinal absorption and transport of folate through the blood brain barrier and SLC19A25 transports thiamine into the mitochondria.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research