title: Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.
abstract: OBJECTIVE
  The aim of this study was to characterize patients diagnosed with glucose transporter protein-1 deficiency syndrome (GLUT-1 DS) clinically and genetically, and to evaluate the effect of treatment with the classic ketogenic or modified Atkins diet.
  
  
  METHODS
  We retrospectively studied medical records of 10 patients diagnosed with GLUT-1 DS. Four females and six males with a median age of 15 years were included.
  
  
  RESULTS
  The study illustrates the genetic and clinical heterogeneity of GLUT-1 DS. Analysis of the SLC2A1 gene disclosed a variety of mutation types. The time between onset of symptoms and diagnosis was more than 11 years on average. The outcome in those with early diagnosis and intervention was surprisingly good. All but one patient with the classic phenotype became seizure free after treatment with the classic ketogenic or modified Atkins diet. Acetazolamide was effective in one patient with paroxysmal exercise-induced dyskinesia. A point prevalence of GLUT-1 DS in Norway was estimated as 2.6 per 1,000,000 inhabitants.
  
  
  CONCLUSIONS
  Although the long-term prognosis in patients with GLUT-1 DS partly depends on the underlying genetics, our study supports the assumption that early initiation of treatment with a ketogenic diet may positively affect the outcome.
authors: Department of Refractory Epilepsy, SSE, Oslo, Norway. anette.ramm-pettersen@ous-hf.no
authors: Anette
authors: A
authors: Ramm-Pettersen
authors: Karl O
authors: KO
authors: Nakken
authors: Inger M
authors: IM
authors: Skogseid
authors: Hans
authors: H
authors: Randby
authors: Erik B
authors: EB
authors: Skei
authors: Laurence A
authors: LA
authors: Bindoff
authors: Kaja K
authors: KK
authors: Selmer
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000178:diet therapy* / Q000235:genetics; D050528:Diet, Carbohydrate-Restricted / Q000379:methods*; D055423:Diet, Ketogenic / Q000379:methods*; D004827:Epilepsy / Q000188:drug therapy / Q000209:etiology; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000172:deficiency / Q000187:drug effects / Q000235:genetics; D009664:Norway; D012189:Retrospective Studies; D013129:Spinal Puncture; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants; D009004:Monosaccharide Transport Proteins