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Encephalopathy due to GLUT1 deficiency

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.

ORPHA:71277

  • Synonym(s):
    • De Vivo disease
    • Glucose transporter type 1 deficiency
    • Glut-1 deficiency Syndrome
    • Glut1-DS
  • 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: -

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