Encephalopathy due to GLUT1 deficiency
Encephalopathy due to GLUT1 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.
Also known as De Vivo disease, encephalopathy due to GLUT1 deficiency, glucose transporter type 1 deficiency, Glucose Transporter Type 1 Deficiency Syndrome, glut-1 deficiency syndrome, GLUT1 deficiency syndrome 1, infantile onset, severe, GLUT1 deficiency syndrome type 1, GLUT1-DS — per MONDO