title: Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet.
abstract: Glucose transporter 1 deficiency syndrome (GLUT1-DS) is a treatable metabolic encephalopathy caused by a mutation in the SLC2A1 gene. This mutation causes a compromised transport of glucose across the blood-brain barrier. The treatment of choice is ketogenic diet, with which most patients become seizure-free. At the National Centre for Epilepsy, we have, since 2005, offered treatment with ketogenic diet (KD) and modified Atkins diet (MAD) to children with difficult-to-treat epilepsy. As we believe many children with GLUT1-DS are unrecognized, the aim of this study was to search for patients with GLUT1-DS among those who had been responders (>50% reduction in seizure frequency) to KD or MAD. Of the 130 children included, 58 (44%) were defined as responders. Among these, 11 were already diagnosed with GLUT1-DS. No mutations in the SLC2A1 gene were detected in the remaining patients. However, the clinical features of these patients differed considerably from the patients diagnosed with GLUT1-DS. While 9 out of 10 patients with GLUT1-DS became seizure-free with dietary treatment, only 3 out of the 33 remaining patients were seizure-free with KD or MAD treatment. We therefore conclude that a seizure reduction of >50% following dietary treatment is not a suitable criterion for identifying patients with GLUT1-DS, as these patients generally achieve complete seizure freedom shortly after diet initiation.
authors: Department of Refractory Epilepsy-SSE, Oslo University Hospital, Norway. Electronic address: anette.ramm-pettersen@ous-hf.no.
authors: Anette
authors: A
authors: Ramm-Pettersen
authors: Department of Refractory Epilepsy-SSE, Oslo University Hospital, Norway.
authors: Karl O
authors: KO
authors: Nakken
authors: Department of Refractory Epilepsy-SSE, Oslo University Hospital, Norway.
authors: Kathrine Cammermeyer
authors: KC
authors: Haavardsholm
authors: Department of Medical Genetics, University of Oslo and Oslo University Hospital, Norway; National Centre for Rare Epilepsy-Related Disorders, Oslo University Hospital, Norway.
authors: Kaja Kristine
authors: KK
authors: Selmer
mesh_terms: D001812:Blood-Brain Barrier; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000209:etiology; D002648:Child; D004032:Diet; D050528:Diet, Carbohydrate-Restricted; D055423:Diet, Ketogenic / Q000009:adverse effects*; D004827:Epilepsy / Q000150:complications / Q000178:diet therapy*; D005260:Female; D005947:Glucose; D051272:Glucose Transporter Type 1 / Q000172:deficiency*; D006801:Humans; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000172:deficiency*; D009154:Mutation; D012640:Seizures / Q000209:etiology; D016896:Treatment Outcome
chemical_list: D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; D005947:Glucose
keywords: Epilepsy; GLUT1-DS; Ketogenic diet; SLC2A1