title: Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency.
abstract: 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 2 important water-soluble vitamins, folate, and thiamine. SLC19A1 transports folate and SLC19A2 and SLC19A3 transport thiamine. PCFT and FOLR1 ensure intestinal absorption and transport of folate through the blood-brain barrier and SLC19A25 transports thiamine into the mitochondria. Several damaging genetic defects in vitamin B transport and metabolism have been reported. The most relevant feature of thiamine and folate transport defects is that both of them are treatable disorders. In this article, we discuss the biology and transport of thiamine and folate, as well as the clinical phenotype of the genetic defects.
authors.affiliation: Department of Child Neurology, Pediatric Research Institute, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain.
authors.forename: Juan Darío
authors.initials: JD
authors.lastname: Ortigoza Escobar
authors.affiliation: Department of Child Neurology, Pediatric Research Institute, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain. Electronic address: bperez@hsjdbcn.org.
authors.forename: Belén
authors.initials: B
authors.lastname: Pérez Dueñas
mesh_terms: D002675:Child, Preschool; D005492:Folic Acid / Q000378:metabolism*; D005494:Folic Acid Deficiency / Q000378:metabolism* / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D026901:Membrane Transport Proteins / Q000172:deficiency*; D008661:Metabolism, Inborn Errors / Q000378:metabolism* / Q000628:therapy; D013831:Thiamine / Q000378:metabolism*; D013832:Thiamine Deficiency / Q000378:metabolism* / Q000628:therapy
chemical_list: D026901:Membrane Transport Proteins; C120043:SLC19A2 protein, human; C492291:SLC19A3 protein, human; D005492:Folic Acid; D013831:Thiamine