Preferred Label : Encephalopathy due to GLUT1 deficiency;
ICD-11 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.;
ICD-11 synonym : Facilitated glucose transporter protein type 1 deficiency; Glucose transporter defect, blood-brain barrier;
Origin ID : 1231079185;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
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.
