title: Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.
abstract: Glucose transport protein deficiency due to mutation in the GLUT1 gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10-year-old normocephalic male with prominent ataxia, dystonia, choreoathetosis, and GLUT1 deficiency whose motor abnormalities improved with a ketogenic diet. We illustrate the motor abnormalities, at baseline and after ketogenic diet, that characterize this unusual case. This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders.
authors.affiliation: Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, and Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY, USA. jfriedma@helix.mgh.harvard.edu
authors.forename: Jennifer R L
authors.initials: JR
authors.lastname: Friedman
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Thiele
authors.forename: Dong
authors.initials: D
authors.lastname: Wang
authors.forename: Kara B
authors.initials: KB
authors.lastname: Levine
authors.forename: Erin K
authors.initials: EK
authors.lastname: Cloherty
authors.forename: Heidi H
authors.initials: HH
authors.lastname: Pfeifer
authors.forename: Darryl C
authors.initials: DC
authors.lastname: De Vivo
authors.forename: Anthony
authors.initials: A
authors.lastname: Carruthers
authors.forename: Marvin R
authors.initials: MR
authors.lastname: Natowicz
mesh_terms: D001264:Athetosis / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics; D001786:Blood Glucose / Q000378:metabolism; D002648:Child; D002819:Chorea / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D004041:Dietary Fats / Q000008:administration & dosage*; D004910:Erythrocyte Membrane / Q000378:metabolism; D006580:Genetic Carrier Screening; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D009069:Movement Disorders / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D016254:Mutagenesis, Insertional; D012640:Seizures / Q000178:diet therapy / Q000235:genetics*
chemical_list: D001786:Blood Glucose; D004041:Dietary Fats; D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human