Orphanet: Encephalopathy due to GLUT1 deficiency

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Classic glucose transporter type 1 deficiency syndrome

Disease definition

Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.


Classification level: Disorder
  • Synonym(s):
    • Classic GLUT1 deficiency syndrome
    • Classic GLUT1-DS
    • De Vivo disease
    • Encephalopathy due to GLUT1 deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G93.4
  • OMIM: 606777
  • UMLS: C1847501
  • MeSH: -
  • GARD: 9265
  • MedDRA: -

Detailed information

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