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Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article

Yıl 2024, Cilt: 14 Sayı: 1, 283 - 295, 28.03.2024
https://doi.org/10.33808/clinexphealthsci.1310203

Öz

Objective: The ketogenic diet, which has been used in the treatment of epilepsy since the 1920s, is a diet containing high fat, sufficient protein, and low carbohydrate. The ketogenic diet mimics the metabolic effects of fasting by shifting metabolism towards fat utilization. The ketogenic diet, which has different variants, such as the classical ketogenic diet, modified Atkins diet, and medium-chain triglyceride diet, is used in inborn errors of metabolism to target the underlying metabolic state by bypassing the damaged metabolic pathway or to treat the clinical symptoms of inborn errors of metabolism, such as epileptic seizures. In this review, we assessed the evidence for ketogenic diet interventions in the treatment of inborn errors of metabolism.
Methods: The Google Scholar search engine, PubMed, Scopus, and Science Direct databases were used to find studies on the use of ketogenic diet interventions in the treatment of inborn errors of metabolism.
Results: The beneficial effects of different variants of the ketogenic diet on glucose transport type 1 deficiency syndrome and pyruvate dehydrogenase complex deficiency have long been recognized. There are also favorable data on its use in myopathic glycogen storage diseases, mitochondrial diseases, and nonketotic hyperglycinemia accompanied by epilepsy.
Conclusion: The evidence is mostly based on individual case reports, case series, and clinical trials with small sample sizes and is insufficient to make recommendations.

Kaynakça

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Yıl 2024, Cilt: 14 Sayı: 1, 283 - 295, 28.03.2024
https://doi.org/10.33808/clinexphealthsci.1310203

Öz

Kaynakça

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  • Huang L, Li H, Zhong J, Yang L, Chen G, Wang D, Zheng G, Han H, Han X, Long Y, Wang X, Liang J, Yu M, Shen X, Fan M, Fang G, Liao J, Sun D. Efficacy and safety of the ketogenic diet for mitochondrial disease with epilepsy: A prospective, open-labeled, controlled study. Front Neurol. 2022;13:880944. DOI: 10.3389/fneur.2022.880944.
  • Zweers H, van Wegberg AMJ, Janssen MCH, Wortmann SB. Ketogenic diet for mitochondrial disease : A systematic review on efficacy and safety. Orphanet J Rare Dis. 2021;16:295. DOI: 10.1186/s13023-021-01927-w.
  • Köse E, Köse M, Edizer S, Akisin Z, Yilmaz Z, Sahin A, Genel F. Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene. Turk J Pediatr. 2020;62(4):652-656. DOI: 10.24953/turkjped.2020.04.016.
  • Pfeiffer B, Sen K, Kaur S, Pappas K. Expanding phenotypic spectrum of cerebral aspartate-glutamate carrier isoform 1 (AGC1) deficiency. Neuropediatrics. 2020;51(2):160-163. DOI: 10.1055/s-0039-3400976.
  • Koessler M, Haberlandt E, Karall D, Baumann M, Höller A, Scholl-Bürgi S. Ketogenic diet in a patient with refractory status epilepticus due to polg mutation. JIMD Rep. 2021;57(1):3-8. DOI: 10.1002/jmd2.12169.
  • O’Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Baric I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, van Karnebeek CDM. The genotypic and phenotypic spectrum of MTO1 deficiency. Mol Genet Metab. 2018;123(1):28-42. DOI: 10.1016/j.ymgme.2017.11.003.
  • Qu C, Keijer J, Adjobo-Hermans MJV, van de Wal M, Schirris T, van Karnebeek C, Pan Y, Koopman WJH. The ketogenic diet as a therapeutic intervention strategy in mitochondrial disease. Int J Biochem Cell Biol. 2021;138:106050. DOI: 10.1016/j.biocel.2021.106050.
  • Prasad C, Rupar T, Prasad AN. Pyruvate dehydrogenase deficiency and epilepsy. Brain Dev. 2011;33(10):856-865. DOI: 10.1016/j.braindev.2011.08.003.
  • El-gharbawy AH, Boney A, Young SP, Kishnani PS. Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet. Mol Genet Metab. 2011;102(2):214-215. DOI: 10.1016/j.ymgme.2010.11.001.
  • Sofou K, Dahlin M, Hallböök T, Lindefeldt M, Viggedal G, Darin N. Ketogenic diet in pyruvate dehydrogenase complex deficiency: Short- and long-term outcomes. J Inherit Metab Dis. 2017;40(2):237-245. DOI: 10.1007/s10545-016-0011-5.
  • Inui T, Wada Y, Shibuya M, Arai-ichinoi N. Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency. Brain Dev. 2022;44(3):244-248. DOI: 10.1016/j.braindev.2021.11.005.
  • Kwiterovich PO, Vining EPG, Pyzik P, Skolasky R, Freeman JM. Effect of a high-fat ketogenic diet on plasma levels of lipids, lipoproteins, and apolipoproteins in children. JAMA. 2003;290(7):912-920. DOI: 10.1001/jama.290.7.912.
  • Pisa VD, Cecconi I, Gentile V, Pietro ED, Marchiani V, Verrotti A, Franzoni E. Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment. J Child Neurol. 2012;27(12):1593-1596. DOI: 10.1177/0883073812436424.
  • Klepper J. Absence of SLC2A1 mutations does not exclude glut1 deficiency syndrome. Neuropediatrics. 2013;44(4):235-236. DOI: 10.1055/s-0033-1336015.
  • De Giorgis V, Veggiotti P. GLUT1 deficiency syndrome 2013: Current state of the art. Seizure. 2013;22(10):803-811. DOI: 10.1016/j.seizure.2013.07.003.
  • Klepper J, Leiendecker B. Glut1 deficiency syndrome and novel ketogenic diets. J Child Neurol. 2013;28(8):1045-1048. DOI: 10.1177/0883073813487600.
  • Pascual JM, Ronen GM. Glucose transporter type I deficiency (G1D) at 25 (1990-2015): Presumptions, facts, and the lives of persons with this rare disease. Pediatr Neurol. 2015;53(5):379-393. DOI: 10.1016/j.pediatrneurol.2015.08.001.
  • Klepper J. Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet. Epilepsia. 2008;49:46-49. DOI: 10.1111/j.1528-1167.2008.01833.x.
  • 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(2):216-222. DOI: 10.1002/jimd.12175.
  • Kass HR, Winesett SP, Bessone SK, Turner Z, Kossoff EH. Use of dietary therapies amongst patients with GLUT1 deficiency syndrome. Seizure. 2016;35:83-87. DOI: 10.1016/j.seizure.2016.01.011.
  • Gumus H, Bayram AK, Kardas F, Canpolat M, Çağlayan 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(5):313-320. DOI: 10.1055/s-0035-1558435.
  • Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CGEL, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen MEC, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CMR, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010;133(3):655-670. DOI: 10.1093/brain/awp336.
  • Pong AW, Geary BR, Engelstad KM, Natarajan A, Yang H, De Vivo DC. 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.
  • Sandu C, Burloiu CM, Barca DG, Magureanu SA, Craiu DC. Ketogenic diet in patients with GLUT1 deficiency syndrome. Maedica. 2019;14(2):93-97. DOI: 10.26574/maedica.2019.14.2.93.
  • 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(5):440-447. DOI: 10.1111/dmcn.12096.
  • Ito Y, Oguni H, Ito S, Oguni M, Osawa M. A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome. Dev Med Child Neurol. 2011;53(7):658-663. DOI: 10.1111/j.1469-8749.2011.03961.x.
  • Fujii T, Ito Y, Takahashi S, Shimono K, Natsume J, Yanagihara K, Oguni H. Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey. Brain Dev. 2016;38(7):628-637. DOI: 10.1016/j.braindev.2016.01.002.
  • Amalou S, Gras D, Ilea A, Greneche MO, Francois L, Bellavoine V, Delanoe C, Auvin S. Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome. Dev Med Child Neurol. 2016;58(11):1193-1199. DOI: 10.1111/dmcn.13167.
  • Herrero JR, Villarroya EC, Gutiérrez-Solana LG, Alcolea BG, Fernández BG, Macfarland LP, Pedrón-Giner C. Classic ketogenic diet and modified atkins diet in SLC2A1 positive and negative patients with suspected GLUT1 deficiency syndrome: a single center analysis of 18 cases. Nutrients. 2021;13(3):840. DOI: 10.3390/nu13030840.
  • Bekker YAC, Lambrechts DA, Verhoeven JS, van Boxtel J, Troost C, Kamsteeg EJ, Willemsen MA, Braakman HMH. Failure of ketogenic diet therapy in GLUT1 deficiency syndrome. Eur J Paediatr Neurol. 2019;23(3):404-409. DOI: 10.1016/j.ejpn.2019.02.012.
  • Leen WG, Mewasingh L, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA. Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet. Mov Disord. 2013;28(10):1439-1442. DOI: 10.1002/mds.25515.
  • Slaughter L, Vartzelis G, Arthur T. New GLUT-1 mutation in a child with treatmentresistant epilepsy. Epilepsy Res. 2009;84(2-3):254-256. DOI: 10.1016/j.eplepsyres.2009.01.004.
  • Ohshiro-Sasaki A, Shimbo H, Takano K, Wada T, Osaka H. A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia. Pediatr Neurol. 2014;50(1):99-100. DOI: 10.1016/j.pediatrneurol.2013.09.002.
  • Haberlandt E, Karall D, Jud V, Baumgartner SS, Zotter S, Rostasy K, Baumann M, Scholl-Buergi S. Glucose transporter type 1 deficiency syndrome effectively treated with modified Atkins diet. Neuropediatrics. 2014;45(2):117-119. DOI: 10.1055/s-0033-1349225.
  • 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(5):404-408. DOI: 10.1016/j.braindev.2009.04.013.
  • Veggiotti P, De Giorgis V. Dietary treatments and new therapeutic perspective in GLUT1 deficiency syndrome. Curr Treat Options Neurol. 2014;16(5):291. DOI: 10.1007/s11940-014-0291-8.
Toplam 85 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Beslenme Bilimi, Çocuk Metabolizma Hastalıkları
Bölüm Review
Yazarlar

Cansu Kök Şan 0000-0002-4754-1635

Mücahit Muslu 0000-0002-8761-5061

Gülden Fatma Gökçay 0000-0003-3726-5726

Erken Görünüm Tarihi 23 Mart 2024
Yayımlanma Tarihi 28 Mart 2024
Gönderilme Tarihi 5 Haziran 2023
Yayımlandığı Sayı Yıl 2024 Cilt: 14 Sayı: 1

Kaynak Göster

APA Kök Şan, C., Muslu, M., & Gökçay, G. F. (2024). Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article. Clinical and Experimental Health Sciences, 14(1), 283-295. https://doi.org/10.33808/clinexphealthsci.1310203
AMA Kök Şan C, Muslu M, Gökçay GF. Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article. Clinical and Experimental Health Sciences. Mart 2024;14(1):283-295. doi:10.33808/clinexphealthsci.1310203
Chicago Kök Şan, Cansu, Mücahit Muslu, ve Gülden Fatma Gökçay. “Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article”. Clinical and Experimental Health Sciences 14, sy. 1 (Mart 2024): 283-95. https://doi.org/10.33808/clinexphealthsci.1310203.
EndNote Kök Şan C, Muslu M, Gökçay GF (01 Mart 2024) Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article. Clinical and Experimental Health Sciences 14 1 283–295.
IEEE C. Kök Şan, M. Muslu, ve G. F. Gökçay, “Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article”, Clinical and Experimental Health Sciences, c. 14, sy. 1, ss. 283–295, 2024, doi: 10.33808/clinexphealthsci.1310203.
ISNAD Kök Şan, Cansu vd. “Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article”. Clinical and Experimental Health Sciences 14/1 (Mart 2024), 283-295. https://doi.org/10.33808/clinexphealthsci.1310203.
JAMA Kök Şan C, Muslu M, Gökçay GF. Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article. Clinical and Experimental Health Sciences. 2024;14:283–295.
MLA Kök Şan, Cansu vd. “Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article”. Clinical and Experimental Health Sciences, c. 14, sy. 1, 2024, ss. 283-95, doi:10.33808/clinexphealthsci.1310203.
Vancouver Kök Şan C, Muslu M, Gökçay GF. Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article. Clinical and Experimental Health Sciences. 2024;14(1):283-95.

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