title: Diagnosing Glucose Transporter 1 Deficiency at Initial Presentation Facilitates Early Treatment.
abstract: OBJECTIVE
  To profile the initial clinical events of glucose transporter 1 deficiency syndrome (Glut1 DS) in order to facilitate the earliest possible diagnosis.
  
  
  METHODS
  We retrospectively reviewed 133 patients with Glut1 DS from a single institution. Family interviews and medical record reviews identified the first clinical event(s) reported by the caregivers.
  
  
  RESULTS
  Average age of the first event was 8.15 ± 11.9 months (range: 0.01-81). Ninety-one patients experienced the first symptom before age 6 months (68%). Thirty-three additional patients (25%) presented before age 2 years. Only 9 patients (7%), reported the first event after age 2 years. Seizures were the most common first event (n = 81, 61%), followed by eye movement abnormalities (n = 51, 38%) and changes in muscle strength and tone (n = 30, 22%). Eye movement abnormalities, lower cerebrospinal fluid glucose values, and lower Columbia Neurological Scores correlated with earlier onset of the first event (r: -0.17, 0.22, and 0.25 respectively, P < .05). There was no correlation with age of first event and red blood cell glucose uptake or mutation type.
  
  
  CONCLUSIONS
  Glut1 DS is a treatable cause of infantile onset encephalopathy. Health care providers should recognize the wide spectrum of paroxysmal events that herald the clinical onset of Glut1 DS in early infancy to facilitate prompt diagnosis, immediate treatment, and improved long-term outcome.
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician and Surgeons, New York, NY; Division of Pediatric Neurology, Department of Neurology, Pediatric Epilepsy Center, Columbia University College of Physician and Surgeons, New York, NY.
authors.forename: Cigdem Inan
authors.initials: CI
authors.lastname: Akman
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician and Surgeons, New York, NY.
authors.forename: Julia
authors.initials: J
authors.lastname: Yu
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician and Surgeons, New York, NY; Division of Pediatric Neurology, Department of Neurology, Pediatric Epilepsy Center, Columbia University College of Physician and Surgeons, New York, NY.
authors.forename: Aliza
authors.initials: A
authors.lastname: Alter
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician and Surgeons, New York, NY.
authors.forename: Kristin
authors.initials: K
authors.lastname: Engelstad
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Colleen Giblin Research Laboratory, Columbia University College of Physician and Surgeons, New York, NY. Electronic address: dcd1@columbia.edu.
authors.forename: Darryl C
authors.initials: DC
authors.lastname: De Vivo
mesh_terms: D017668:Age of Onset; D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000254:growth & development; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy; D017028:Caregivers; D002648:Child; D002675:Child, Preschool; D055423:Diet, Ketogenic; D061345:Early Medical Intervention; D004827:Epilepsy / Q000175:diagnosis; D005133:Eye Movements; D005260:Female; D051272:Glucose Transporter Type 1 / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008499:Medical Records; D010372:Pediatrics / Q000379:methods; D012189:Retrospective Studies; D012640:Seizures / Q000175:diagnosis / Q000188:drug therapy
chemical_list: D000927:Anticonvulsants; D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human