/encephalopathy due to GLUT1 deficiency

encephalopathy due to GLUT1 deficiency

Rare Disease

MONDO:0011724

Also Known As

De Vivo diseaseGLUT1 deficiency syndrome 1, infantile onset, severeGLUT1 deficiency syndrome type 1GLUT1-DSGlucose Transporter Type 1 Deficiency Syndromeencephalopathy due to GLUT1 deficiencyglucose transporter type 1 deficiencyglut-1 deficiency syndromeG1DGLUT1 DSGLUT1 deficiency syndromeGLUT1 deficiency syndrome 1GLUT1 deficiency syndrome 1, autosomal recessiveGLUT1DS1glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, includedglucose Transport defect, blood-brain barrierglucose transport defect, blood-brain barrierglucose transporter Protein syndromeglucose transporter protein syndromeglucose transporter type 1 deficiency syndromeglucose transporter type1 (glut-1) deficiency

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.