Clinical Nutrition Research

The Korean Society of Clinical Nutrition (한국임상영양학회)
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Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome

  • Young-Sun Kim (Department of Nutrition and Food Control, Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Woojeong Kim (Department of Nutrition and Food Control, Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Ji-Hoon Na (Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine) ;
  • Young-Mock Lee (Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine)
  • Received : 2023.06.14
  • Accepted : 2023.07.14
  • Published : 2023.07.31
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Abstract

Glucose transporter type 1 (GLUT1) deficiency syndrome (DS) is a metabolic brain disorder caused by a deficiency resulting from SLC2A1 gene mutation and is characterized by abnormal brain metabolism and associated metabolic encephalopathy. Reduced glucose supply to the brain leads to brain damage, resulting in delayed neurodevelopment in infancy and symptoms such as eye abnormalities, microcephaly, ataxia, and rigidity. Treatment options for GLUT1 DS include ketogenic diet (KD), pharmacotherapy, and rehabilitation therapy. Of these, KD is an essential and the most important treatment method as it promotes brain neurodevelopment by generating ketone bodies to produce energy. This case is a focused study on intensive KD nutritional intervention for an infant diagnosed with GLUT1 DS at Gangnam Severance Hospital from May 2022 to January 2023. During the initial hospitalization, nutritional intervention was performed to address poor intake via the use of concentrated formula and an attempt was made to introduce complementary feeding. After the second hospitalization and diagnosis of GLUT1 DS, positive effects on the infant's growth and development, nutritional status, and seizure control were achieved with minimal side effects by implementing KD nutritional intervention and adjusting the type and dosage of anticonvulsant medications. In conclusion, for patients with GLUT1 DS, it is important to implement a KD with an appropriate ratio of ketogenic to nonketogenic components to supply adequate energy. Furthermore, individualized and intensive nutritional management is necessary to improve growth, development, and nutritional status.

Keywords

References

  1. Koch H, Weber YG. The glucose transporter type 1 (Glut1) syndromes. Epilepsy Behav 2019;91:90-3. 
  2. Gumus H, Bayram AK, Kardas F, Canpolat M, Caglayan AO, Kumandas S, Kendirci M, Per H. The effects of ketogenic diet on seizures, cognitive functions, and other neurological disorders in classical phenotype of glucose transporter 1 deficiency syndrome. Neuropediatrics 2015;46:313-20. 
  3. Klepper J, Akman C, Armeno M, Auvin S, Cervenka M, Cross HJ, De Giorgis V, Della Marina A, Engelstad K, Heussinger N, Kossoff EH, Leen WG, Leiendecker B, Monani UR, Oguni H, Neal E, Pascual JM, Pearson TS, Pons R, Scheffer IE, Veggiotti P, Willemsen M, Zuberi SM, De Vivo DC. Glut1 deficiency syndrome (Glut1DS): state of the art in 2020 and recommendations of the international Glut1DS study group. Epilepsia Open 2020;5:354-65. 
  4. Schwantje M, Verhagen LM, van Hasselt PM, Fuchs SA. Glucose transporter type 1 deficiency syndrome and the ketogenic diet. J Inherit Metab Dis 2020;43:216-22. 
  5. Kossoff EH, Zupec-Kania BA, Auvin S, Ballaban-Gil KR, Christina Bergqvist AG, Blackford R, Buchhalter JR, Caraballo RH, Cross JH, Dahlin MG, Donner EJ, Guzel O, Jehle RS, Klepper J, Kang HC, Lambrechts DA, Liu YM, Nathan JK, Nordli DR Jr, Pfeifer HH, Rho JM, Scheffer IE, Sharma S, Stafstrom CE, Thiele EA, Turner Z, Vaccarezza MM, van der Louw EJ, Veggiotti P, Wheless JW, Wirrell EC; Charlie Foundation; Matthew's Friends; Practice Committee of the Child Neurology Society. Optimal clinical management of children receiving dietary therapies for epilepsy: updated recommendations of the International Ketogenic Diet Study Group. Epilepsia Open 2018;3:175-92. 
  6. Kass HR, Winesett SP, Bessone SK, Turner Z, Kossoff EH. Use of dietary therapies amongst patients with GLUT1 deficiency syndrome. Seizure 2016;35:83-7. 
  7. Klepper J, Diefenbach S, Kohlschutter A, Voit T. Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome. Prostaglandins Leukot Essent Fatty Acids 2004;70:321-7. 
  8. Kang HC, Chung DE, Kim DW, Kim HD. Early- and late-onset complications of the ketogenic diet for intractable epilepsy. Epilepsia 2004;45:1116-23. 
  9. Becker PJ, Nieman Carney L, Corkins MR, Monczka J, Smith E, Smith SE, Spear BA, White JV. Consensus statement of the Academy of Nutrition and Dietetics/American Society for Parenteral and Enteral Nutrition: indicators recommended for the identification and documentation of pediatric malnutrition (undernutrition). J Acad Nutr Diet 2014;114:1988-2000. 
  10. Sampaio LP. Ketogenic diet for epilepsy treatment. Arq Neuropsiquiatr 2016;74:842-8. 
  11. Severance Hospital; Samsung Welstory. Ketogenic eating guide. Georgia: Cypress; 2016.
  12. Veggiotti P, Teutonico F, Alfei E, Nardocci N, Zorzi G, Tagliabue A, De Giorgis V, Balottin U. Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype. Brain Dev 2010;32:404-8. 
  13. Ramm-Pettersen A, Stabell KE, Nakken KO, Selmer KK. Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study. Epilepsy Behav 2014;39:111-5. 
  14. Ramm-Pettersen A, Nakken KO, Skogseid IM, Randby H, Skei EB, Bindoff LA, Selmer KK. Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. Dev Med Child Neurol 2013;55:440-7. 
  15. Olivotto S, Duse A, Bova SM, Leonardi V, Biganzoli E, Milanese A, Cereda C, Bertoli S, Previtali R, Veggiotti P. Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases. Orphanet J Rare Dis 2022;17:365.