title: GLUT1 deficiency and other glucose transporter diseases.
abstract: We review the three genetically determined disorders of glucose transport across cell membranes. Diseases such as glucose-galactose malabsorption, Fanconi-Bickel syndrome and De Vivo disease (GLUT1 deficiency syndrome (GLUT1DS)) arise from heritable mutations in transporter-encoding genes that impair monosaccharide uptake, which becomes rate-limiting in tissues where the transporters serve as the main glucose carrier systems. We focus in greater detail on De Vivo disease as a prototype of a brain energy failure syndrome, for which the greatest pathophysiological detail is known, but which presents the most therapeutic challenges. The study of these diseases illustrates fundamental aspects of energetic metabolism, while providing the basis for their diagnosis by simple metabolic screening and for their treatment by dietary modification.
authors.affiliation: Colleen Giblin Laboratories, Neurological Institute of New York, College of Physicians and Surgeons, Columbia University, New York City, NY, USA. GiblinLabs@neuro.columbia.edu
authors.forename: Juan M
authors.initials: JM
authors.lastname: Pascual
authors.forename: Dong
authors.initials: D
authors.lastname: Wang
authors.forename: Beatriz
authors.initials: B
authors.lastname: Lecumberri
authors.forename: Hong
authors.initials: H
authors.lastname: Yang
authors.forename: Xia
authors.initials: X
authors.lastname: Mao
authors.forename: Ru
authors.initials: R
authors.lastname: Yang
authors.forename: Darryl C
authors.initials: DC
authors.lastname: De Vivo
mesh_terms: D000818:Animals; D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D004195:Disease Models, Animal; D051272:Glucose Transporter Type 1; D006801:Humans; D009004:Monosaccharide Transport Proteins / Q000172:deficiency* / Q000235:genetics*; D009154:Mutation
chemical_list: D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human