Failure of ketogenic diet therapy in GLUT1 deficiency syndrome.

Purpose: Epilepsy in GLUT1 deficiency syndrome is generally drug-resistant; ketogenic diet (KD) therapy is the mainstay of therapy, as production of ketones provides the brain with an alternative energy source, bypassing the defect in GLUT1. Failure of KD therapy and risk factors for failure have been sparsely published.

Methods: We performed a retrospective study of GLUT1DS patients with refractory epilepsy failing on KD therapy, to identify their clinical characteristics.