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GENATLAS PHENOTYPE
last update : 26-05-2010
Symbol SLC2A1
Location 1p34.2
Name glucose transporter type 1 deficiency syndrome
Other name(s) GLUT1 deficiency syndrome
Corresponding gene SLC2A1
Other symbol(s) GLUT1DS
Main clinical features
  • infantile seizures, microcephaly, developmental delay and hypoglycorrhachia, caused by haploinsufficiency of the blood-brain barrier hexose carrier, efficiently treated by ketogenic diet
  • brain energy failure and epileptic encephalopathy
    • Genetic determination autosomal dominant
    Function/system disorder metabolism/carbohydrates
    mental retardation
    Type disease
    Gene product
    Name glucose transport member 1 (SLC2A1), wide spectrum of mutation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein  
    missense   abnormal protein/loss of function mutants have significantly diminished membrane association and glucose transport acti
      deletion   microdeletions ranged in size from 45Kb to 4.51Mb in patients with severe epilepsy, significant cognitive and motor delay, ataxia, and microcephaly (PMID: 20382060)
    Remark(s) 93% of patients with Glut-1 DS have identifiable mutations in SLC2A1