Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a genetic condition associated with complex neurologic symptoms, including epilepsy. Ketogenic diet therapy (KDT) is considered the standard treatment for GLUT1DS. This retrospective study identified trends in treatment with KDT for patients with GLUT1DS to optimize the current standards of care.
Methods
A retrospective chart review was performed to identify patients at a pediatric institution with GLUT1DS receiving the ketogenic diet.
Results
Twelve patients were identified; 10 met inclusion criteria. A classic ketogenic diet (cKD) with a 3:1 ratio provides effective support for patients in this sample.
Conclusion
Results of the study suggest that a 3:1 ratio of KDT, which may increase tolerance and adherence and reduce adverse effects, may be acceptable in patients with GLUT1DS.
DaciABozalijaAJashariFKrasniqiS. Individualizing treatment approaches for epileptic patients with glucose transporter type 1 (GLUT-1) deficiency. Int J Mol Sci. 2018;19(1):122. doi: 10.3390/ijms19010122
2.
KlepperJAkmanCArmenoM, et al.Glut1 deficiency syndrome (Glut1DS): state of the art in 2020 and recommendations of the International Glut1DS Study Group. Epilepsia Open. 2020;5(3):354-365. doi: 10.1002/epi4.12414
3.
LeenWGKlepperJVerbeekMM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010;133(Pt 3):655-670. doi: 10.1093/brain/awp336
4.
WangDSandsTTangM, et al. Glucose transporter type 1 deficiency syndrome. 2002 Jul 30 [Updated 2025 Mar 6]. In: AdamMPFeldmanJMirzaaGM, et al, eds. GeneReviews® [Internet]. University of Washington, Seattle; 1993-2025. https://www.ncbi.nlm.nih.gov/books/NBK1430/
5.
RhoJM. How does the ketogenic diet induce anti-seizure effects?Neurosci Lett. 2017;637:4-10. doi: 10.1016/j.neulet.2015.07.034
6.
PoorshiriBBarzegarMAfghanM, et al.The effects of ketogenic diet on beta-hydroxybutyrate, arachidonic acid, and oxidative stress in pediatric epilepsy. Epilepsy Behav. 2023;140:109106. doi: 10.1016/j.yebeh.2023.109106
7.
Ruiz-HerreroJCañedo-VillarroyaEPérez-SebastiánIBernardino-CuestaBPedrón-GinerC. Efficacy and safety of ketogenic dietary therapies in infancy. A single-center experience in 42 infants less than two years of age. Seizure. 2021;92:106-111. doi: 10.1016/j.seizure.2021.08.018
8.
KossoffEHZupec-KaniaBAAuvinS, et al.Optimal clinical management of children receiving dietary therapies for epilepsy: updated recommendations of the International Ketogenic Diet Study Group. Epilepsia Open. 2018;3(2):175-192. doi: 10.1002/epi4.12225
BertoliSTrentaniCFerrarisCDe GiorgisVVeggiottiPTagliabueA. Long-term effects of a ketogenic diet on body composition and bone mineralization in GLUT-1 deficiency syndrome: a case series. Nutrition. 2014;30(6):726-728. doi: 10.1016/j.nut.2014.01.005
11.
CameronTAllanKCooperK. The use of ketogenic diets in children living with drug-resistant epilepsy, glucose transporter 1 deficiency syndrome and pyruvate dehydrogenase deficiency: a scoping review. J Hum Nutr Diet. 2024;37(4):827-846. doi: 10.1111/jhn.13324
12.
De AmicisRLeoneAPellizzariM, et al. Long-term follow-up of nutritional status in children with GLUT1 deficiency syndrome treated with classic ketogenic diet: a 5-year prospective study. Front Nutr. 2023;10:1148960. doi:10.3389/fnut.2023.1148960
13.
KassHRWinesettSPBessoneSKTurnerZKossoffEH. Use of dietary therapies amongst patients with GLUT1 deficiency syndrome. Seizure. 2016;35:83-87. doi: 10.1016/j.seizure.2016.01.011
14.
Lehner-GulottaDBlackfordRBessoneS, et al.Practical experience and challenges in nutritional management of glucose transporter 1 deficiency syndrome: provider survey results. Epilepsia Open. 2025;10(2):628-634. doi:10.1002/epi4.13135
15.
WellsJSwaminathanAPasekaJHansonC. Efficacy and safety of a ketogenic diet in children and adolescents with refractory epilepsy—a review. Nutrients. 2020;12(6):1809. doi: 10.3390/nu12061809
16.
PongAGearyBEngelstadKNatarajanAYangHDe VivoD. Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. Epilepsia. 2012;53(9):1503-1510. doi: 10.1111/j.1528-1167.2012.03592.x
17.
ArmenoMLKossoffEH. Let food be thy medicine. The interaction between ketogenic diet therapy and anti-seizure medications: a systematic review. Epileptic Disord. 2023;25(1):18-27. doi: 10.1002/epd2.20055
