TY - JOUR T1 - Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome JF - Journal of Neurology, Neurosurgery & Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 444 LP - 445 DO - 10.1136/jnnp-2019-321694 VL - 91 IS - 4 AU - Elodie Hainque AU - Aurélie Meneret AU - Domitille Gras AU - Mariana Atencio AU - Marie-Pierre Luton AU - Magali Barbier AU - Anne De Saint Martin AU - Thierry Billette de Villemeur AU - Chris Ottolenghi AU - Emmanuel Roze AU - Fanny Mochel Y1 - 2020/04/01 UR - http://jnnp.bmj.com/content/91/4/444.abstract N2 - Glucose transporter type 1 deficiency syndrome (GLUT1-DS) causes cerebral energy deficiency due to altered transport of glucose across the blood brain barrier and into astrocytes.1 Its main phenotype combines developmental delay, permanent motor dysfunction and paroxysmal neurological manifestations.1 In addition, GLUT1-DS may solely consist of paroxysmal manifestations such as seizures or exercise-induced paroxysmal dyskinesia.Ketogenic diet is the primary treatment of GLUT1-DS with clear efficacy on seizures and non-epileptic motor manifestations,1 but it has severe constraints. Ketogenic diet failure has been occasionally reported due to poor tolerance, inefficacy or failure to achieve ketosis,2 emphasising the need for alternative therapeutic options. Triheptanoin is a triglyceride containing three 7-carbon fatty acids, which provides acetyl-coenzyme A (CoA) and propionyl-CoA, two key carbon sources for the Krebs cycle.3 Treatment with triheptanoin resulted in a dramatic and sustained reduction of non-epileptic paroxysmal events in a group of GLUT1-DS patients who were not on ketogenic diet.4 5 Here, we evaluated the long-term effect of triheptanoin in four GLUT1-DS patients with persistent paroxysmal manifestations while on ketogenic diet.We enrolled four GLUT1-DS patients (table 1) who reported persistent paroxysmal events while on ketogenic diet (trial registration number NCT02014883). Three adults and one child’s legal guardian signed a written informed consent for participation in this study sponsored by INSERM.View this table:In this windowIn a new windowTable 1 Baseline characteristics of GLUT1-DS patients and changes in outcome variablesThe study was divided into baseline, transition from ketogenic diet to triheptanoin (transition), short-term evolution (short term) and long-term follow-up (long term) with triheptanoin. A flow … ER -