title: [Glucose transporter protein type 1 (GLUT-1) deficiency syndrome].
abstract: BACKGROUND
  Glucose is the brain's main source of energy. To pass the blood-brain barrier, glucose transporter protein type 1 (GLUT-1) is essential. Mutations in the SLC2A1 gene which codes for GLUT-1 may therefore compromise the supply of glucose to the brain. The aim of this review is to describe the clinical consequences of such mutations, with special emphasis on GLUT-1 encephalopathy.
  
  
  METHODS
  This review is based on a non-systematic literature search in PubMed and the authors' experience within the field.
  
  
  RESULTS
  Epileptic or epilepsy-like are usually the first symptom in children with the GLUT-1 deficiency syndrome. Later on these children suffer delayed psychomotor development, microcephaly, ataxia, spasticity or movement disorders. EEG abnormalities may develop. GLUT-1 deficiency syndrome should be suspected in children with epilepsy-like seizures and delayed development combined with a low content of glucose in spinal fluid. The diagnosis is confirmed by genetic testing. Treatment is a ketogenic diet, as ketone bodies pass the blood-brain barrier using other transport proteins than GLUT-1.
  
  
  CONCLUSIONS
  GLUT-1-deficiency syndrome is a rare metabolic encephalopathy which is not well known and probably underdiagnosed. An early diagnosis and early start of a ketogenic diet may give these children a normal or nearly normal life.
authors.affiliation: Seksjon for barn og ungdom med epilepsi, Avdeling for kompleks epilepsi – SSE, Klinikk for kirurgi og nevrofag, Oslo universitetssykehus, Postboks 53, 1306 Bærum postterminal, Norway. anette.ramm-pettersen@
authors.forename: Anette
authors.initials: A
authors.lastname: Ramm-Pettersen
authors.forename: Kaja Kristine
authors.initials: KK
authors.lastname: Selmer
authors.forename: Karl O
authors.initials: KO
authors.lastname: Nakken
mesh_terms: D001927:Brain Diseases / Q000175:diagnosis / Q000178:diet therapy / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis / Q000378:metabolism; D055423:Diet, Ketogenic; D004827:Epilepsy / Q000175:diagnosis / Q000178:diet therapy / Q000378:metabolism; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007223:Infant; D009154:Mutation; D011379:Prognosis; D013577:Syndrome
chemical_list: D051272:Glucose Transporter Type 1