title: Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport?
abstract: Facilitated glucose transporter isoform 1 deficiency syndrome (GLUT1 DS), caused by impaired GLUT1-mediated glucose transport into the brain, is characterized by hypoglycorrhachia. The defect in the facilitative glucose transporter isoform 1 (GLUT1) can be confirmed by functional, quantitative, and molecular analyses. Diagnostic difficulties arise when these analyses are normal and hypoglycorrhachia remains unexplained. Three infants presenting with seizures and hypoglycorrhachia at 2, 4, and 6 weeks of age, which suggests GLUT1 deficiency syndrome, are reported. The seizures responded to a ketogenic diet in Patients 1 and 3 and phenobarbitone in Patient 2. Repeated GLUT1 analyses were normal. When treatment was discontinued, all patients remained seizure-free and developed normally. Subsequent lumbar punctures showed the return to normoglycorrhachia. We conclude that these cases might represent a transient disturbance in GLUT1-mediated glucose transport. The biomolecular basis for this clinical observation remains unknown. Though no treatment is required, clinical follow-up and repeated lumbar punctures are necessary to distinguish this benign condition from the original GLUT1 deficiency syndrome.
authors.affiliation: Department of Pediatric Neurology, University of Essen, Essen, Germany.
authors.forename: Jörg
authors.initials: J
authors.lastname: Klepper
authors.forename: Darryl C
authors.initials: DC
authors.lastname: De Vivo
authors.forename: David W
authors.initials: DW
authors.lastname: Webb
authors.forename: Lars
authors.initials: L
authors.lastname: Klinge
authors.forename: Thomas
authors.initials: T
authors.lastname: Voit
mesh_terms: D001692:Biological Transport / Q000502:physiology; D005260:Female; D005947:Glucose / Q000134:cerebrospinal fluid* / Q000172:deficiency; D051272:Glucose Transporter Type 1; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007662:Ketosis / Q000134:cerebrospinal fluid / Q000178:diet therapy; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000134:cerebrospinal fluid* / Q000172:deficiency
chemical_list: D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human; D005947:Glucose