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

Cansu Kök Şan; Mücahit Muslu; Gülden Fatma Gökçay

doi:10.33808/clinexphealthsci.1310203

Review

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

Year 2024, Volume: 14 Issue: 1, 283 - 295, 28.03.2024

Cansu Kök Şan , Mücahit Muslu , Gülden Fatma Gökçay

https://doi.org/10.33808/clinexphealthsci.1310203

Abstract

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.

Keywords

Ketogenic diet, modified Atkins diet, glycogen storage disease, mitochondrial disease, GLUT1 deficiency

References

Martin K, Jackson CF, Levy RG, Cooper PN. Ketogenic diet and other dietary treatments for epilepsy. Cochrane Database Syst Rev. 2016;2:CD001903. DOI: 10.1002/14651858.CD001903.pub3.
Verrotti A, Iapadre G, Pisano S, Coppola G. Ketogenic diet and childhood neurological disorders other than epilepsy: An overview. Expert Rev Neurother. 2017;17(5):461-473. DOI: 10.1080/14737175.2017.1260004.
Dhamija R, Eckert S, Wirrell E. Ketogenic diet. Can J Neurol Sci. 2013;40(2):158-167. DOI: 10.1017/S0317167100013676.
Kossoff EH, Dorward JL, Molinero MR, Holden KR. The modified Atkins diet: A potential treatment for developing countries. Epilepsia. 2008;49(9):1646-1647. DOI: 10.1111/j.1528-1167.2008.01580_6.x.
Kossoff EH, McGrogan JR, Bluml RM, Pillas DJ, Rubenstein JE, Vining EP. A modified Atkins diet is effective for the treatment of intractable pediatric epilepsy. Epilepsia. 2006;47(2):421-424. DOI: 10.1111/j.1528-1167.2006.00438.x.
Huttenlocher PR, Wilbourn AJ, Signore JM. Medium-chain triglycerides as a therapy for intractable childhood epilepsy. Neurology. 1971;21(11):1097-1103. DOI: 10.1212/wnl.21.11.1097.
Liu YMC. Medium-chain triglyceride (MCT) ketogenic therapy. Epilepsia. 2008;49(Suppl. 8):33-36. DOI: 10.1111/j.1528-1167.2008.01830.x.
Scholl-Bürgi S, Höller A, Pichler K, Michel M, Haberlandt E, Karall D. Ketogenic diets in patients with inherited metabolic disorders. J Inherit Metab Dis. 2015;38(4):765-773. DOI: 10.1007/s10545-015-9872-2.
Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforet P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ. Glycogen storage disease type III: Diagnosis, genotype, management, clinical course and outcome. J Inherit Metab Dis. 2016;39(5):697-704. DOI: 10.1007/s10545-016-9932-2.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GPA, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS. Glycogen storage disease type III diagnosis and management guidelines. Genet Med. 2010;12(7):446-463. DOI: 10.1097/GIM.0b013e3181e655b6.
Derks TGJ, Smit GPA. Dietary management in glycogen storage disease type III: What is the evidence? J Inherit Metab Dis. 2015;38(3):545-550. DOI: 10.1007/s10545-014-9756-x.
Olgac A, İnci A, Okur İ, Biberoğlu G, Oğuz D, Ezgü FS, Kasapkara ÇS, Aktaş E, Tümer L. Beneficial effects of modified Atkins diet in glycogen storage disease type IIIa. Ann Nutr Metab. 2020;76(4):233-241. DOI: 10.1159/000509335.
Mayorandan S, Meyer U, Hartmann H, Das AM. Glycogen storage disease type III: Modified Atkins diet improves myopathy. Orphanet J Rare Dis. 2014;9:196. DOI: 10.1186/s13023-014-0196-3.
Fischer T, Njoroge H, Och U, Klawon I, Marquardt T. Ketogenic diet treatment in adults with glycogenosis type IIIa (Morbus Cori). Clin Nutr Exp. 2019;28:83-91. DOI: 10.1016/j.yclnex.2019.09.004.
Francini-pesenti F, Tresso S, Vitturi N. Modified Atkins ketogenic diet improves heart and skeletal muscle function in glycogen storage disease type III. Acta Myol. 2019;38(1):17-20.
Akin KB, Hismi BO, Daly A. Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa. Mol Genet Metab Rep. 2022;32:100904. DOI: 10.1016/j.ymgmr.2022.100904.
Brambilla A, Mannarino S, Pretese R, Gasperini S, Galimberti C, Parini R. Improvement of cardiomyopathy after high-fat diet in two siblings with glycogen storage disease type iii. JIMD Rep. 2014;17:91-95. DOI: 10.1007/8904_2014_343.
Marusic T, Zerjav M, Sirca A, Mezek A, Berden P. Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa. Mol Genet Metab Rep. 2020;24:100628. DOI: 10.1016/j.ymgmr.2020.100628.
Valayannopoulos V, Bajolle F, Arnoux JB, Dubois S, Sannier N, Baussan C, Petit F, Labrune P, Rabier D, Ottolenghi C, Vassault A, Broissand C, Bonnet D, de Lonlay P. Successful treatment of severe cardiomyopathy in glycogen storage disease type III with d,l-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res. 2011;70:638-641. DOI: 10.1203/PDR.0b013e318232154f.
Rossi A, Hoogeveen IJ, Bastek VB, de Boer F, Montanari C, Meyer U, Maiorana A, Bordugo A, Dianin A, Campana C, Rigoldi M, Kishnani PS, Pendyal S, Strisciuglio P, Gasperini S, Parenti G, Parini R, Paci S, Melis D, Derks TGJ. Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations. J Inherit Metab Dis. 2020;43(4):770-777. DOI: 10.1002/jimd.12224.
Quinlivan R, Buckley J, Twist A, Ball S, Duno M, Vissing J, Bruno C, Cassandrini D, Roberts M, Winer J, Rose M, Sewry C. McArdle disease: A clinical review. J Neurol Neurosurg Psychiatry. 2010;81(11):1182-1188. DOI: 10.1136/jnnp.2009.195040.
Quinlivan R, Martinuzzi A, Schoser B. Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). Cochrane Database Syst Rev. 2014;11:CD003458. DOI: 10.1002/14651858.CD003458.pub5.
Andersen S, Haller R, Vissing J. Effect of oral sucrose shortly before exercise on work capacity in McArdle disease. Arch Neurol. 2008;65(6):786-789. DOI: 10.1001/archneur.65.6.786.
Vissing J, Haller RG. The effect of oral sucrose on exercise tolerance in patients with McArdle’s disease. N Engl J Med. 2003;349(26):2503-2509. DOI: 10.1056/NEJMoa031836.
Mikkelsen K, Seifert T, Secher N, Grøndal T, van Hall G. Systemic, cerebral and skeletal muscle ketone body and energy metabolism during acute hyper-D-β-hydroxybutyratemia in post-absorptive healthy males. J Clin Endocrinol Metab. 2015;100(2):636-643. DOI: 10.1210/jc.2014-2608.
Busch V, Gempel K, Hack A, Müller K, Vorgerd M, Lochmüller H, Baumeister FA. Treatment of glycogenosis type V with ketogenic diet. Ann Neurol. 2005;58(2):341. DOI: 10.1002/ana.20565.
Vorgerd M, Zange J. Treatment of glycogenosys type V (McArdle disease) with creatine and ketogenic diet with clinical scores and with 31P-MRS on working leg muscle. Acta Myol. 2007;26(1):61-63.
Reason SL, Westman EC, Godfrey R, Maguire E. Can a low-carbohydrate diet improve exercise tolerance in Mcardle disease? J Rare Disord Diagn Ther. 2017;3:1-5. DOI: 10.21767/2380-7245.100054.
Løkken N, Hansen KK, Storgaard JH, Ørngreen MC, Quinlivan R, Vissing J. Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study. J Inherit Metab Dis. 2020;43(4):778-786. DOI: 10.1002/jimd.12223.
Løkken N, Storgaard JH, Revsbech KL, Voermans NC, Van Hall G, Vissing J, Ørngreen MC. No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo-controlled cross-over study. J Inherit Metab Dis. 2022;45(3):502-516. DOI: 10.1002/jimd.12484.
Reason SL, Godfrey RJ. The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII. Curr Opin Endocrinol Diabetes Obes. 2020;27(5):283-290. DOI: 10.1097/MED.0000000000000567.
Swoboda KJ, Specht L, Jones HR, Shapiro F, DiMauro S, Korson M. Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet. J Pediatr. 1997;131(6):932-934. DOI: 10.1016/S0022-3476(97)70048-9.
Similä ME, Auranen M, Piirilä PL. Beneficial effects of ketogenic diet on phosphofructokinase deficiency (glycogen storage disease type VII). Front Neurol. 2020;11:57. DOI: 10.3389/fneur.2020.00057.
Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Vaisanen ML, Spector E, Creadon-Swindell G, Bras-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Perez-Cerda C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JLK. The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2017;19(1):104-111. DOI: 10.1038/gim.2016.74.
Suzuki Y, Kure S, Oota M, Hino H, Fukuda M. Nonketotic hyperglycinemia: Proposal of a diagnostic and treatment strategy. Pediatr Neurol. 2010;43(3):221-224. DOI: 10.1016/j.pediatrneurol.2010.04.018.
Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CM, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK. Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels. Orphanet J Rare Dis. 2022;17(1):423. DOI: 10.1186/s13023-022-02581-6.
Daida A, Hamano SI, Ikemoto S, Hirata Y, Matsuura R, Koichihara R, Oba D, Ohashi H. Use of Perampanel and a ketogenic diet in nonketotic hyperglycinemia: A case report. Neuropediatrics. 2020;51(6):417-420. DOI: 10.1055/s-0040-1708536.
Freeman J, Kossoff E. Ketosis and the ketogenic diet, 2010: Advances in treating epilepsy and other disorders. Adv Pediatr. 2010;57(1):315-329. DOI: 10.1016/j.yapd.2010.08.003.
Kava MP, Robertson A, Greed L, Balasubramaniam S. Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: A case report. Eur J Clin Nutr. 2019;73(6):961-965. DOI: 10.1038/s41430-018-0286-8.
Shbarou RM, Boustany RM, Daher RT, Pakdel P, Noureddine A, Karam PE. Outcome of nonketotic hyperglycinemia in Lebanon: 14-year retrospective review. Neuropediatrics. 2019;50(4):235-243. DOI: 10.1055/s-0039-1692207.
Bough K. Energy metabolism as part of the anticonvulsant mechanism of the ketogenic diet. Epilepsia. 2008;49(Suppl. 8):91-93. DOI: 10.1111/j.1528-1167.2008.01846.x.
Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, Alston CL, Olahova M, McFarland R, Taylor RW. Recent advances in understanding the molecular genetic basis of mitochondrial disease. J Inherit Metab Dis. 2020;43(1):36-50. DOI: 10.1002/jimd.12104.
Kang HC, Lee YM, Kim HD. Mitochondrial disease and epilepsy. Brain Dev. 2013;35(8):757-761. DOI: 10.1016/j.braindev.2013.01.006.
Bastin J. Regulation of mitochondrial fatty acid β-oxidation in human: What can we learn from inborn fatty acid β-oxidation deficiencies? Biochimie. 2014;96(1):113-120. DOI: 10.1016/j.biochi.2013.05.012.
Kossoff EH, Zupec-Kania BA, Auvin S, Ballaban-Gil KR, Bergqvist AGC, Blackford R, Buchhalter JR, Caraballo RH, Cross JH, Dahlin MG, Donner EJ, Guzel O, Jehle RS, Klepper J, Kang H, Lambrechts DA, Liu YMC, Nathan JK, Nordli DR, Pfeifer HH, Rho JM, Scheffer IE, Sharma S, Stafstrom CE, Thiele EA, Turner Z, Vaccarezza MM, van der Louw EJTM, Veggiotti P, Wheless JW, Wirrell EC. 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.
Rahman S. Mitochondrial disease and epilepsy. Dev Med Child Neurol. 2012;54(5):397-406. DOI: 10.1111/j.1469-8749.2011.04214.x.
Lee YM, Kang HC, Lee JS, Kim SH, Kim EY, Lee SK, Slama A, Kim HD. Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions. Epilepsia. 2008;49(4):685-690. DOI: 10.1111/j.1528-1167.2007.01522.x.
Na JH, Kim HD, Lee YM. Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction. Ther Adv Neurol Disord. 2020;13:1-12. DOI: 10.1177/1756286419897813.
Kang HC, Lee YM, Kim HD, Lee JS, Slama A. Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects. Epilepsia. 2007;48(1):82-88. DOI: 10.1111/j.1528-1167.2006.00906.x.
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.

Year 2024, Volume: 14 Issue: 1, 283 - 295, 28.03.2024

Cansu Kök Şan , Mücahit Muslu , Gülden Fatma Gökçay

https://doi.org/10.33808/clinexphealthsci.1310203

Abstract

References

Martin K, Jackson CF, Levy RG, Cooper PN. Ketogenic diet and other dietary treatments for epilepsy. Cochrane Database Syst Rev. 2016;2:CD001903. DOI: 10.1002/14651858.CD001903.pub3.
Verrotti A, Iapadre G, Pisano S, Coppola G. Ketogenic diet and childhood neurological disorders other than epilepsy: An overview. Expert Rev Neurother. 2017;17(5):461-473. DOI: 10.1080/14737175.2017.1260004.
Dhamija R, Eckert S, Wirrell E. Ketogenic diet. Can J Neurol Sci. 2013;40(2):158-167. DOI: 10.1017/S0317167100013676.
Kossoff EH, Dorward JL, Molinero MR, Holden KR. The modified Atkins diet: A potential treatment for developing countries. Epilepsia. 2008;49(9):1646-1647. DOI: 10.1111/j.1528-1167.2008.01580_6.x.
Kossoff EH, McGrogan JR, Bluml RM, Pillas DJ, Rubenstein JE, Vining EP. A modified Atkins diet is effective for the treatment of intractable pediatric epilepsy. Epilepsia. 2006;47(2):421-424. DOI: 10.1111/j.1528-1167.2006.00438.x.
Huttenlocher PR, Wilbourn AJ, Signore JM. Medium-chain triglycerides as a therapy for intractable childhood epilepsy. Neurology. 1971;21(11):1097-1103. DOI: 10.1212/wnl.21.11.1097.
Liu YMC. Medium-chain triglyceride (MCT) ketogenic therapy. Epilepsia. 2008;49(Suppl. 8):33-36. DOI: 10.1111/j.1528-1167.2008.01830.x.
Scholl-Bürgi S, Höller A, Pichler K, Michel M, Haberlandt E, Karall D. Ketogenic diets in patients with inherited metabolic disorders. J Inherit Metab Dis. 2015;38(4):765-773. DOI: 10.1007/s10545-015-9872-2.
Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforet P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ. Glycogen storage disease type III: Diagnosis, genotype, management, clinical course and outcome. J Inherit Metab Dis. 2016;39(5):697-704. DOI: 10.1007/s10545-016-9932-2.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GPA, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS. Glycogen storage disease type III diagnosis and management guidelines. Genet Med. 2010;12(7):446-463. DOI: 10.1097/GIM.0b013e3181e655b6.
Derks TGJ, Smit GPA. Dietary management in glycogen storage disease type III: What is the evidence? J Inherit Metab Dis. 2015;38(3):545-550. DOI: 10.1007/s10545-014-9756-x.
Olgac A, İnci A, Okur İ, Biberoğlu G, Oğuz D, Ezgü FS, Kasapkara ÇS, Aktaş E, Tümer L. Beneficial effects of modified Atkins diet in glycogen storage disease type IIIa. Ann Nutr Metab. 2020;76(4):233-241. DOI: 10.1159/000509335.
Mayorandan S, Meyer U, Hartmann H, Das AM. Glycogen storage disease type III: Modified Atkins diet improves myopathy. Orphanet J Rare Dis. 2014;9:196. DOI: 10.1186/s13023-014-0196-3.
Fischer T, Njoroge H, Och U, Klawon I, Marquardt T. Ketogenic diet treatment in adults with glycogenosis type IIIa (Morbus Cori). Clin Nutr Exp. 2019;28:83-91. DOI: 10.1016/j.yclnex.2019.09.004.
Francini-pesenti F, Tresso S, Vitturi N. Modified Atkins ketogenic diet improves heart and skeletal muscle function in glycogen storage disease type III. Acta Myol. 2019;38(1):17-20.
Akin KB, Hismi BO, Daly A. Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa. Mol Genet Metab Rep. 2022;32:100904. DOI: 10.1016/j.ymgmr.2022.100904.
Brambilla A, Mannarino S, Pretese R, Gasperini S, Galimberti C, Parini R. Improvement of cardiomyopathy after high-fat diet in two siblings with glycogen storage disease type iii. JIMD Rep. 2014;17:91-95. DOI: 10.1007/8904_2014_343.
Marusic T, Zerjav M, Sirca A, Mezek A, Berden P. Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa. Mol Genet Metab Rep. 2020;24:100628. DOI: 10.1016/j.ymgmr.2020.100628.
Valayannopoulos V, Bajolle F, Arnoux JB, Dubois S, Sannier N, Baussan C, Petit F, Labrune P, Rabier D, Ottolenghi C, Vassault A, Broissand C, Bonnet D, de Lonlay P. Successful treatment of severe cardiomyopathy in glycogen storage disease type III with d,l-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res. 2011;70:638-641. DOI: 10.1203/PDR.0b013e318232154f.
Rossi A, Hoogeveen IJ, Bastek VB, de Boer F, Montanari C, Meyer U, Maiorana A, Bordugo A, Dianin A, Campana C, Rigoldi M, Kishnani PS, Pendyal S, Strisciuglio P, Gasperini S, Parenti G, Parini R, Paci S, Melis D, Derks TGJ. Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations. J Inherit Metab Dis. 2020;43(4):770-777. DOI: 10.1002/jimd.12224.
Quinlivan R, Buckley J, Twist A, Ball S, Duno M, Vissing J, Bruno C, Cassandrini D, Roberts M, Winer J, Rose M, Sewry C. McArdle disease: A clinical review. J Neurol Neurosurg Psychiatry. 2010;81(11):1182-1188. DOI: 10.1136/jnnp.2009.195040.
Quinlivan R, Martinuzzi A, Schoser B. Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). Cochrane Database Syst Rev. 2014;11:CD003458. DOI: 10.1002/14651858.CD003458.pub5.
Andersen S, Haller R, Vissing J. Effect of oral sucrose shortly before exercise on work capacity in McArdle disease. Arch Neurol. 2008;65(6):786-789. DOI: 10.1001/archneur.65.6.786.
Vissing J, Haller RG. The effect of oral sucrose on exercise tolerance in patients with McArdle’s disease. N Engl J Med. 2003;349(26):2503-2509. DOI: 10.1056/NEJMoa031836.
Mikkelsen K, Seifert T, Secher N, Grøndal T, van Hall G. Systemic, cerebral and skeletal muscle ketone body and energy metabolism during acute hyper-D-β-hydroxybutyratemia in post-absorptive healthy males. J Clin Endocrinol Metab. 2015;100(2):636-643. DOI: 10.1210/jc.2014-2608.
Busch V, Gempel K, Hack A, Müller K, Vorgerd M, Lochmüller H, Baumeister FA. Treatment of glycogenosis type V with ketogenic diet. Ann Neurol. 2005;58(2):341. DOI: 10.1002/ana.20565.
Vorgerd M, Zange J. Treatment of glycogenosys type V (McArdle disease) with creatine and ketogenic diet with clinical scores and with 31P-MRS on working leg muscle. Acta Myol. 2007;26(1):61-63.
Reason SL, Westman EC, Godfrey R, Maguire E. Can a low-carbohydrate diet improve exercise tolerance in Mcardle disease? J Rare Disord Diagn Ther. 2017;3:1-5. DOI: 10.21767/2380-7245.100054.
Løkken N, Hansen KK, Storgaard JH, Ørngreen MC, Quinlivan R, Vissing J. Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study. J Inherit Metab Dis. 2020;43(4):778-786. DOI: 10.1002/jimd.12223.
Løkken N, Storgaard JH, Revsbech KL, Voermans NC, Van Hall G, Vissing J, Ørngreen MC. No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo-controlled cross-over study. J Inherit Metab Dis. 2022;45(3):502-516. DOI: 10.1002/jimd.12484.
Reason SL, Godfrey RJ. The potential of a ketogenic diet to minimize effects of the metabolic fault in glycogen storage disease V and VII. Curr Opin Endocrinol Diabetes Obes. 2020;27(5):283-290. DOI: 10.1097/MED.0000000000000567.
Swoboda KJ, Specht L, Jones HR, Shapiro F, DiMauro S, Korson M. Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet. J Pediatr. 1997;131(6):932-934. DOI: 10.1016/S0022-3476(97)70048-9.
Similä ME, Auranen M, Piirilä PL. Beneficial effects of ketogenic diet on phosphofructokinase deficiency (glycogen storage disease type VII). Front Neurol. 2020;11:57. DOI: 10.3389/fneur.2020.00057.
Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Vaisanen ML, Spector E, Creadon-Swindell G, Bras-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Perez-Cerda C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JLK. The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2017;19(1):104-111. DOI: 10.1038/gim.2016.74.
Suzuki Y, Kure S, Oota M, Hino H, Fukuda M. Nonketotic hyperglycinemia: Proposal of a diagnostic and treatment strategy. Pediatr Neurol. 2010;43(3):221-224. DOI: 10.1016/j.pediatrneurol.2010.04.018.
Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CM, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK. Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels. Orphanet J Rare Dis. 2022;17(1):423. DOI: 10.1186/s13023-022-02581-6.
Daida A, Hamano SI, Ikemoto S, Hirata Y, Matsuura R, Koichihara R, Oba D, Ohashi H. Use of Perampanel and a ketogenic diet in nonketotic hyperglycinemia: A case report. Neuropediatrics. 2020;51(6):417-420. DOI: 10.1055/s-0040-1708536.
Freeman J, Kossoff E. Ketosis and the ketogenic diet, 2010: Advances in treating epilepsy and other disorders. Adv Pediatr. 2010;57(1):315-329. DOI: 10.1016/j.yapd.2010.08.003.
Kava MP, Robertson A, Greed L, Balasubramaniam S. Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: A case report. Eur J Clin Nutr. 2019;73(6):961-965. DOI: 10.1038/s41430-018-0286-8.
Shbarou RM, Boustany RM, Daher RT, Pakdel P, Noureddine A, Karam PE. Outcome of nonketotic hyperglycinemia in Lebanon: 14-year retrospective review. Neuropediatrics. 2019;50(4):235-243. DOI: 10.1055/s-0039-1692207.
Bough K. Energy metabolism as part of the anticonvulsant mechanism of the ketogenic diet. Epilepsia. 2008;49(Suppl. 8):91-93. DOI: 10.1111/j.1528-1167.2008.01846.x.
Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, Alston CL, Olahova M, McFarland R, Taylor RW. Recent advances in understanding the molecular genetic basis of mitochondrial disease. J Inherit Metab Dis. 2020;43(1):36-50. DOI: 10.1002/jimd.12104.
Kang HC, Lee YM, Kim HD. Mitochondrial disease and epilepsy. Brain Dev. 2013;35(8):757-761. DOI: 10.1016/j.braindev.2013.01.006.
Bastin J. Regulation of mitochondrial fatty acid β-oxidation in human: What can we learn from inborn fatty acid β-oxidation deficiencies? Biochimie. 2014;96(1):113-120. DOI: 10.1016/j.biochi.2013.05.012.
Kossoff EH, Zupec-Kania BA, Auvin S, Ballaban-Gil KR, Bergqvist AGC, Blackford R, Buchhalter JR, Caraballo RH, Cross JH, Dahlin MG, Donner EJ, Guzel O, Jehle RS, Klepper J, Kang H, Lambrechts DA, Liu YMC, Nathan JK, Nordli DR, Pfeifer HH, Rho JM, Scheffer IE, Sharma S, Stafstrom CE, Thiele EA, Turner Z, Vaccarezza MM, van der Louw EJTM, Veggiotti P, Wheless JW, Wirrell EC. 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.
Rahman S. Mitochondrial disease and epilepsy. Dev Med Child Neurol. 2012;54(5):397-406. DOI: 10.1111/j.1469-8749.2011.04214.x.
Lee YM, Kang HC, Lee JS, Kim SH, Kim EY, Lee SK, Slama A, Kim HD. Mitochondrial respiratory chain defects: Underlying etiology in various epileptic conditions. Epilepsia. 2008;49(4):685-690. DOI: 10.1111/j.1528-1167.2007.01522.x.
Na JH, Kim HD, Lee YM. Effective and safe diet therapies for Lennox-Gastaut syndrome with mitochondrial dysfunction. Ther Adv Neurol Disord. 2020;13:1-12. DOI: 10.1177/1756286419897813.
Kang HC, Lee YM, Kim HD, Lee JS, Slama A. Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects. Epilepsia. 2007;48(1):82-88. DOI: 10.1111/j.1528-1167.2006.00906.x.
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.

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Details

Primary Language	English
Subjects	Nutritional Science, Pediatric Metabolism Diseases
Journal Section	Review
Authors	Cansu Kök Şan 0000-0002-4754-1635 Mücahit Muslu 0000-0002-8761-5061 Gülden Fatma Gökçay 0000-0003-3726-5726
Early Pub Date	March 23, 2024
Publication Date	March 28, 2024
Submission Date	June 5, 2023
Published in Issue	Year 2024 Volume: 14 Issue: 1

Cite

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. March 2024;14(1):283-295. doi:10.33808/clinexphealthsci.1310203
Chicago	Kök Şan, Cansu, Mücahit Muslu, and Gülden Fatma Gökçay. “Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article”. Clinical and Experimental Health Sciences 14, no. 1 (March 2024): 283-95. https://doi.org/10.33808/clinexphealthsci.1310203.
EndNote	Kök Şan C, Muslu M, Gökçay GF (March 1, 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, and G. F. Gökçay, “Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article”, Clinical and Experimental Health Sciences, vol. 14, no. 1, pp. 283–295, 2024, doi: 10.33808/clinexphealthsci.1310203.
ISNAD	Kök Şan, Cansu et al. “Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article”. Clinical and Experimental Health Sciences 14/1 (March 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 et al. “Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article”. Clinical and Experimental Health Sciences, vol. 14, no. 1, 2024, pp. 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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