title: The expanding phenotype of GLUT1-deficiency syndrome.
abstract: Transport of glucose from the bloodstream across the blood-brain barrier to the central nervous system is facilitated by glucose transport protein type 1 (GLUT1), the first member of the solute carrier family 2 (SLC2). Heterozygous mutations in the GLUT1/SLC2A1 gene, occurring de novo or inherited as an autosomal dominant trait, result in cerebral energy failure and a clinical condition termed GLUT1-deficiency syndrome (GLUT1-DS). Clinical features usually comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly, and a movement disorder with ataxia, dystonia, and spasticity. Subsequent to the delineation of this classic phenotype the variability of signs and symptoms in GLUT1-DS is being recognized. Patients with (i) carbohydrate-responsive symptoms, with (ii) predominant ataxia or dystonia, but without seizures, and with (iii) paroxysmal exertion-induced dyskinesia and seizures have been reported. Common laboratory hallmark in all phenotypes is the reduced glucose level in cerebrospinal fluid with lowered CSF-to-blood glucose ratio. Treatment with a ketogenic diet results in marked improvement of seizures and movement disorders.
authors.affiliation: Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Robert-Koch-Str. 40, 37075 Göttingen, Germany. kbrock@med.uni-goettingen.de
authors.forename: Knut
authors.initials: K
authors.lastname: Brockmann
mesh_terms: D001921:Brain / Q000473:pathology / Q000503:physiopathology; D055423:Diet, Ketogenic; D020820:Dyskinesias / Q000134:cerebrospinal fluid / Q000235:genetics / Q000473:pathology; D004827:Epilepsy / Q000134:cerebrospinal fluid / Q000235:genetics / Q000473:pathology; D015444:Exercise; D005947:Glucose / Q000134:cerebrospinal fluid / Q000378:metabolism; D044882:Glucose Metabolism Disorders / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D009069:Movement Disorders / Q000134:cerebrospinal fluid / Q000235:genetics / Q000473:pathology; D009154:Mutation; D010641:Phenotype; D013577:Syndrome; D014741:Video Recording
chemical_list: D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human; D005947:Glucose