title: [Glucose transporter-1 deficiency syndrome can cause various clinical symptoms].
abstract: Glucose transporter-1 deficiency syndrome (GLUT1-DS) is caused by a decreased function of the glucose transporter GLUT1 protein, which is located in the blood brain barrier. This leads to inadequate glucose levels for brain metabolism and can cause various clinical symptoms including medically intractable epilepsy, developmental delay and complex movement disorders. Ketonic diet is the golden standard for treatment of GLUT1-DS. GLUT1-DS should be suspected in patients with early-onset intractable epilepsy with developmental delay or activity-induced movement disorders with or without epilepsy.
authors.affiliation: Forskning og Udvikling, Epilepsihospitalet. Artillerivej 100b, 5. tv., 2300 København S. jalar@filadelfia.dk
authors.forename: Jan
authors.initials: J
authors.lastname: Larsen
authors.forename: Vibeke
authors.initials: V
authors.lastname: Stubbings
authors.forename: Rikke Steensbjerre
authors.initials: RS
authors.lastname: Møller
authors.forename: Helle
authors.initials: H
authors.lastname: Hjalgrim
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics; D003072:Cognition Disorders / Q000209:etiology; D055423:Diet, Ketogenic; D004827:Epilepsy / Q000209:etiology; D051272:Glucose Transporter Type 1 / Q000172:deficiency*; D006801:Humans; D009004:Monosaccharide Transport Proteins / Q000172:deficiency* / Q000235:genetics; D009069:Movement Disorders / Q000209:etiology
chemical_list: D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins