Publication

Abstract : Glucose transporter-1 (GLUT1)/SLC2A1 is expressed at the highest levels in brain capillaries, astroglia, and erythrocytes. GLUT1-deficiency syndrome is a neurological disorder resulting primarily from aberrant glucose transport into the brain. Clinically, it is classified as GLUT1-deficiency syndrome with epilepsy and without epilepsy. The phenotypic spectrum of GLUT1- deficiency syndrome expanded over last two decades, encompassing a varying combination of epilepsies (absence, atypical absence, myoclonic, myoclonic-astatic, refractory generalized epilepsy, intractable infantile epilepsy etc.), movement disorders (paroxysmal exercise-induced dyskinesia, ataxia, etc.), and developmental delay. Pointers to diagnosis include a classical phenotype: early-onset absences, fasting-induced paroxysms (clinical and electroencephalographic), low cerebrospinal fluid (CSF) glucose (<50 mg/dl; CSF to blood glucose ratio<0.6) and lactate (<1.4 mmol/L), and a remarkable response to ketogenic diet (KD) [1]. Early diagnosis and treatment are rewarding. This report adds a novel presentation to the evolving phenotype of GLUT1-deficiency syndrome.