Sindrome da deficit di trasporto di glucosio tipo 1 (GLUT1): Trattamento con dieta chetogenica in 3 casi con fenotipo atipico

Glucose transporter type I (GLUT-1) deficiency is an inborn error of glucose transport characterized by developmental delay, seizures, ataxia, acquired microcephaly, movement disorders and paroxysmal non epileptic phenomena in variable combination, Diagnosis is based upon demonstration of low concentration of glucose in CSF and identification of mutations in the GLUT-1 gene on chromosome 1. The classic clinical presentation is a severe epileptic encephalopathy with onset in the first year of life, but atypical cases have been reported, expanding the clinical spectrum. We report preliminary results of treatment with ketogenic diet in 3 patients affected by GLUT-1 deficiency with atypical phenotype.