Classic glucose transporter type 1 deficiency syndrome

Go to external page http://www.orpha.net/ORDO/Orphanet_71277


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.

Synonyms:

Encephalopathy due to GLUT1 deficiency

De Vivo disease

Classic GLUT1 deficiency syndrome

Classic GLUT1-DS

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277
hasDbXref
  • OMIM:606777
  • UMLS:C1847501
  • ICD-10:G40.4
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409944
  • http://www.orpha.net/ORDO/Orphanet_409945
has birth prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409977
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
  • http://www.orpha.net/ORDO/Orphanet_409929
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409981
notation
  • ORPHA:71277
part of
  • http://www.orpha.net/ORDO/Orphanet_225713
  • http://www.orpha.net/ORDO/Orphanet_68385
  • http://www.orpha.net/ORDO/Orphanet_79178
present in
  • http://www.orpha.net/ORDO/Orphanet_410051
  • http://www.orpha.net/ORDO/Orphanet_410006
  • http://www.orpha.net/ORDO/Orphanet_409991