Ketogenic diet and childhood neurological disorders other than epilepsy: an overview

References

• Branco AF, Ferreira A, Simões RF, et al. Ketogenic diets: from cancer to mitochondrial diseases and beyond. Eur J Clin Invest. 2016;46:285–298.
   PubMed Web of Science ®Google Scholar
• Neal EG, Chaffe H, Schwartz RH, et al. The ketogenic diet for the treatment of childhood epilepsy: a randomized controlled trial. Lancet Neurol. 2008;7:500–506.
   PubMed Web of Science ®Google Scholar
• Liu YM, Wang HS. Medium-chain triglyceride ketogenic diet, an effective treatment for drug-resistant epilepsy and a comparison with other ketogenic diets. Biomed J. 2013;36:9–15.
   PubMedGoogle Scholar
• Kossoff E, Zupec-Kania B, Amark P, et al. Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group. Epilepsia. 2009;50:304–317.
   PubMed Web of Science ®Google Scholar
• Wibisono C, Rowe N, Beavis E, et al. Ten-year single-center experience of the ketogenic diet: factors influencing efficacy, tolerability, and compliance. J Pediatr. 2015;166(4):1030–1036.
   PubMed Web of Science ®Google Scholar
• Kang HC, Chung DE, Kim DW, et al. Early- and late-onset complications of the ketogenic diet for intractable epilepsy. Epilepsia. 2004;45:1116–1123.
   PubMed Web of Science ®Google Scholar
• Coppola G, Verrotti A, Ammendola E, et al. Ketogenic diet for the treatment of catastrophic epileptic encephalopathies in childhood. Eur J Paediatr Neurol. 2010;14:229–234.
   PubMed Web of Science ®Google Scholar
• Groomes LB, Pyzik PL, Turner Z, et al. Do patients with absence epilepsy respond to ketogenic diets? J Child Neurol. 2011;26:160–165.
   PubMed Web of Science ®Google Scholar
• Kossoff EH, Rowley H, Sinha SR, et al. A prospective study of the modified Atkins diet for intractable epilepsy in adults. Epilepsia. 2008;49:316–319.
   PubMed Web of Science ®Google Scholar
• Kim DY, Simeone KA, Simeone TA, et al. Ketone bodies mediate antiseizure effects through mitochondrial permeability transition. Ann Neurol. 2015;78:77–87.
   PubMed Web of Science ®Google Scholar
• Kang HC, Lee YM, Kim HD, et al. Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects. Epilepsia. 2007;48:82–88.
   PubMed Web of Science ®Google Scholar
• Vila-Pueyo M, Pons R, Raspall-Chaure M, et al. Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. J Neurol Sci. 2014;344:37–42.
   PubMed Web of Science ®Google Scholar
• Roubergue A, Philibert B, Gautier A, et al. Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood. JIMD Rep. 2015;15:7–12.
   PubMedGoogle Scholar
• Ulate-Campos A, Fons C, Artuch R, et al. Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet. Pediatr Neurol. 2014;50:377–379.
   PubMed Web of Science ®Google Scholar
• Evangeliou A, Vlachonikolis I, Mihailidou H, et al. Application of a ketogenic diet in children with autistic behavior: pilot study. J Child Neurol. 2003;18:113–118.
   PubMed Web of Science ®Google Scholar
• Spilioti M, Evangeliou AE, Tramma D, et al. Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD). Front Hum Neurosci. 2013;7:858.
   PubMed Web of Science ®Google Scholar
• Nebeling LC, Miraldi F, Shurin SB, et al. Effects of a ketogenic diet on tumor metabolism and nutritional status in pediatric oncology patients: two case reports. J Am Coll Nutr. 1995;14:202–208.
   PubMed Web of Science ®Google Scholar
• Kalamian M, Zupec-Kania B, Favara BE, et al. Ketogenic diet as adjunctive therapy for brain tumors. First international symposium on the ketogenic diet for epilepsy and other neurological disorders Barrows Neurological Institute, Phoenix Az 2008: Poster presentation.
   Google Scholar
• Rieger J, Bähr O, Maurer GD, et al. ERGO: a pilot study of ketogenic diet in recurrent glioblastoma. Int J Oncol. 2014;44:1843–1852.
   PubMed Web of Science ®Google Scholar
• Champ CE, Palmer JD, Volek JS, et al. Targeting metabolism with a ketogenic diet during the treatment of glioblastoma multiforme. J Neurooncol. 2014;117:125–131.
   PubMed Web of Science ®Google Scholar
• Schwartz K, Chang HT, Nikolai M, et al. Treatment of glioma patients with ketogenic diets: report of two cases treated with an IRB-approved energy-restricted ketogenic diet protocol and review of the literature. Cancer Metab. 2015;3(1):3.
   PubMedGoogle Scholar
• Di Lorenzo C, Currà A, Sirianni G, et al. Diet transiently improves migraine in two twin sisters: possible role of ketogenesis? Funct Neurol. 2013;28:305–308.
   PubMedGoogle Scholar
• Di Lorenzo C, Coppola G, Sirianni G, et al. Migraine improvement during short lasting ketogenesis: a proof-of-concept study. Eur J Neurol. 2015;22:170–177.
   PubMed Web of Science ®Google Scholar
• Kossoff EH, Huffman J, Turner Z, et al. Use of the modified Atkins diet for adolescents with chronic daily headache. Cephalgia. 2010;30:1014–1016.
   PubMed Web of Science ®Google Scholar
• Di Mauro S, Schon EA, Carelli V, et al. The clinical maze of mitochondrial neurology. Nat Rev Neurol. 2013;9:429–444.
   PubMed Web of Science ®Google Scholar
• Schaefer AM, McFarland R, Blakely EL, et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol. 2008;63:35–39.
   PubMed Web of Science ®Google Scholar
• Elliott HR, Samuels DC, Eden JA, et al. Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet. 2008;83:254–260.
   PubMed Web of Science ®Google Scholar
• Chinnery PF, Johnson MA, Wardell TM, et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol. 2000;48:188–193.
   PubMed Web of Science ®Google Scholar
• Kisler JE, Whittaker RG, McFarland R. Mitochondrial diseases in childhood: a clinical approach to investigation and management. Dev Med Child Neurol. 2010;52:422–433.
   PubMed Web of Science ®Google Scholar
• Govindaraj P, Khan NA, Gopalakrishna P, et al. Mitochondrial dysfunction and genetic heterogeneity in chronic periodontitis. Mitochondrion. 2011;11:504–512.
   PubMed Web of Science ®Google Scholar
• Viscomi C, Bottami B, Zeviani M. Emerging concepts in the therapy of mitochondrial disease. Biochim Biophys Acta. 2015;1847(6-7):544-557.
   PubMed Web of Science ®Google Scholar
• Nunnari J, Suomalainen A. Mitochondria: in sickness and in health. Cell. 2012;148:1145–1159.
   PubMed Web of Science ®Google Scholar
• Gilkerson RW, De Vries RL, Lebot P, et al. Mitochondrial autophagy in cells with mtDNA mutations results from the synergistic loss of transmembrane potential and mRORC1 inhibition. Hum Mol Genet. 2012;21:978–990.
   PubMed Web of Science ®Google Scholar
• Danial NN, Hartman AL, Stafstrom CE, et al. How does the ketogenic diet work? Four potential mechanisms. J Child Neurol. 2013;28:1027–1033.
   PubMed Web of Science ®Google Scholar
• Hartman AL, Rho JM. The biochemical basis of dietary therapies for neurological disorders. In: Neal EG, editor. Dietary treatment of epilepsy: practical implementation of ketogenic therapy. Oxford: Wiley-Blackwell; 2012. p. 34–44.
   Google Scholar
• Santra S, Gilkerson RW, Davidson M, et al. Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells. Ann Neurol. 2004;56:662–669.
   PubMed Web of Science ®Google Scholar
• Steriade C, Andrade DM, Faghfoury H, et al. Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) may respond to adjunctive ketogenic diet. Pediatr Neurol. 2014;50:498–502.
   PubMed Web of Science ®Google Scholar
• Krebs P, Fan W, Chen YH, et al. Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet. Proc Natl Acad Sci USA. 2011;108:19678–19682.
   PubMed Web of Science ®Google Scholar
• Ahola-Erkkilä S, Carroll CJ, Peltola-Mjösund K, et al. Ketogenic diet slows down mitochondrial myopathy progression in mice. Hum Mol Genet. 2010;19:1974–1984.
   PubMed Web of Science ®Google Scholar
• Lissens W, Meirleir DL, Sebeca S, et al. Mutation in the X-linked pyruvatedehydrogenase (E1) a subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat. 2000;15:209–219.
   PubMed Web of Science ®Google Scholar
• Cederbaum SD, Blass JP, Minkoff N, et al. Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency. Pediatr Res. 1976;10:713–720.
   PubMed Web of Science ®Google Scholar
• Singhi P, De Meirleir L, Lissens W, et al. Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation. JIMD Rep. 2013;10:107–111.
   PubMedGoogle Scholar
• Wexler ID, Hemalatha SG, McConnell J, et al. Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations. Neurology. 1997;49:1655–1661.
   PubMed Web of Science ®Google Scholar
• Falk RE, Cederbaum SD, Blass JP, et al. Ketogenic diet in the management of pyruvate dehydrogenase deficiency. Pediatrics. 1976;58:713–721.
   PubMed Web of Science ®Google Scholar
• Wijburg FA, Barth PG, Bindoff LA, et al. Leigh syndrome associated with deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet. Neuropediatrics. 1992;23:147–152.
   PubMed Web of Science ®Google Scholar
• El-Gharbawy AH, Boney A, Young SP, et al. Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet. Mol Genet Metab. 2011;102:214–215.
   PubMed Web of Science ®Google Scholar
• Di Pisa V, Cecconi I, Gentile V, et al. Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment. J Child Neurol. 2012;27:1593–1596.
   PubMed Web of Science ®Google Scholar
• Laugel V, This-Bernd V, Cormier-Daire V, et al. Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations. Pediatr Neurol. 2007;36:54–57.
   PubMed Web of Science ®Google Scholar
• Seo JH, Lee YM, Lee JS, et al. A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiency. Brain Dev. 2010;32:253–257.
   PubMed Web of Science ®Google Scholar
• Joshi CN, Greenberg CR, Mhanni AA, et al. Ketogenic diet in Alpers- Huttenlocher syndrome. Pediatr Neurol. 2009;40:314–316.
   PubMed Web of Science ®Google Scholar
• Weber TA, Antognetti MR, Stacpoole PW. Caveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiency. J Pediatr. 2001;138:390–395.
   PubMed Web of Science ®Google Scholar
• Orfali KA, Fryer LGD, Holness MJ, et al. Long-term regulation of pyruvate dehydrogenase kinase by high fat feeding. FEBS Lett. 1997;336:501–505.
   Web of Science ®Google Scholar
• Dietschy JM, Woollett LA, Spady DK. Dietary fatty acids and the regulation of plasma low-density lipoprotein cholesterol levels. Artheroscler Rev. 1991;23:7–18.
   Google Scholar
• Fryer LGD, Orfali KA, Holness MJ, et al. The longterm regulation of skeletal muscle pyruvate dehydrogenase kinase by dietary lipid is dependent on fatty acid composition. Eur J Biochem. 1995;229:741–748.
   PubMedGoogle Scholar
• Nordli DR, DeVivo DC. The ketogenic diet. In: Wyllie E, editor. The treatment of epilepsy. 3rd ed. Philadelphia (PA): Lippincott Williams & Wilkins; 2001. p. 1001–1006.
   Google Scholar
• Kang HC, Kim YJ, Kim DW, et al. Efficacy and safety of the ketogenic diet for intractable childhood epilepsy: Korean multicentric experience. Epilepsia. 2005;46:272–279.
   PubMed Web of Science ®Google Scholar
• Bastin J. Regulation of mitochondrial fatty acid beta-oxidation in human: what can we learn from inborn fatty acid beta-oxidation deficiencies? Biochimie. 2014;96:113–120.
   PubMed Web of Science ®Google Scholar
• Bennett MJ. Pathophysiology of fatty acid oxidation disorders. J Inherit Metab Dis. 2010;33:533–537.
   PubMed Web of Science ®Google Scholar
• Sperl W, Fleuren L, Freisinger P, et al. The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. J Inherit Metab Dis. 2015;38:391–403.
   PubMed Web of Science ®Google Scholar
• Suman B, Kripamoy A. Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency. Epilepsy Res. 2015;116:40–52.
   PubMed Web of Science ®Google Scholar
• Sweney MT, Silver K, Gerard-Blanluet M, et al. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome. Pediatrics. 2009;123:534–541.
   PubMed Web of Science ®Google Scholar
• Panagiotakaki E, Gobbi G, Neville B, et al. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. Brain. 2010;133:3598–3610.
   PubMed Web of Science ®Google Scholar
• Heinzen EL, Swoboda KJ, Hitomi Y, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012;44:1030–1034.
   PubMed Web of Science ®Google Scholar
• Rosewich H, Thiele H, Ohlenbusch A, et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene identification study. Lancet Neurol. 2012;11:764–773.
   PubMed Web of Science ®Google Scholar
• Ishii A, Saito Y, Mitsui J, et al. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. PLoS One. 2013;8(2):e56120.
   PubMed Web of Science ®Google Scholar
• Mikati MA, Kramer U, Zupanc ML, et al. Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. Pediatr Neurol. 2000;23:134–141.
   PubMed Web of Science ®Google Scholar
• Ito Y, Oguni H, Ito S, et al. A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome. Dev Med Child Neurol. 2011;53:658–663.
   PubMed Web of Science ®Google Scholar
• Klepper J, Scheffer H, Leiendecker B, et al. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. Neuropediatrics. 2005;36:302–308.
   PubMed Web of Science ®Google Scholar
• De Giorgis V, Veggiotti P. GLUT1 deficiency syndrome 2013: current state of the art. Seizure. 2013;22:803–811.
   PubMed Web of Science ®Google Scholar
• Sasaki M, Sakuma H, Fukushima A, et al. Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood. Brain Dev. 2009;31:20–26.
   PubMed Web of Science ®Google Scholar
• Gatta G, Botta L, Rossi S, et al. Childhood cancer survival in Europe 1999–2007: results of EUROCARE-5–a population-based study. Lancet Oncol. 2014;15:35–47.
   PubMed Web of Science ®Google Scholar
• Ostrom QT, Bauchet L, Davis FG, et al. The epidemiology of glioma in adults: a “state of the science” review. Neuro Oncol. 2014;16:896–913.
   PubMed Web of Science ®Google Scholar
• Johnson KJ, Cullen J, Barnholtz-Sloan JS, et al. Childhood brain tumor epidemiology: a brain tumor epidemiology consortium review. Cancer Epidemiol Biomarkers Prev. 2014;23:2716–2736.
   PubMed Web of Science ®Google Scholar
• Kapelner A, Vorsanger M. Starvation of cancer via induced ketogenesis and severe hypoglycemia. Med Hypotheses. 2015;84:162–168.
   PubMed Web of Science ®Google Scholar
• Luna B, Bhatia S, Yoo C, et al. Proteomic and mitochondrial genomic analyses of pediatric brain tumors. Mol Neurobiol. 2015;52:1341–1363.
   PubMed Web of Science ®Google Scholar
• Marsh J, Mukherjee P, Seyfried TN. Drug/diet synergy for managing malignant astrocytoma in mice: 2-deoxy-D-glucose and the restricted ketogenic diet. Nutr Metab (Lond). 2008;25:5–33.
   Google Scholar
• Stafford P, Abdelwahab MG, Kim Do Y, et al. The ketogenic diet reverses gene expression patterns and reduces reactive oxygen species levels when used as an adjuvant therapy for glioma. Nutr Metab (Lond). 2010;10:7–74.
   Google Scholar
• Abdelwahab MG, Fenton KE, Preul MC, et al. The ketogenic diet is an effective adjuvant to radiation therapy for the treatment of malignant glioma. PLoS One. 2012;7:e36197.
   PubMed Web of Science ®Google Scholar
• Dang MT, Wehrli S, Dang CV, et al. The ketogenic diet does not affect growth of hedgehog pathway medulloblastoma in mice. PLoS One. 2015;10:e0133633.
   Web of Science ®Google Scholar
• Woolf EC, Curley KL, Liu Q, et al. The ketogenic diet alters the hypoxic response and affects expression of proteins associated with angiogenesis, invasive potential and vascular permeability in a mouse glioma model. PLoS One. 2015;10:e0130357.
   PubMed Web of Science ®Google Scholar
• Chu-Shore CJ, Thiele EA. Tumor growth in patients with tuberous sclerosis complex on the ketogenic diet. Brain Dev. 2010;32:318–322.
   PubMed Web of Science ®Google Scholar
• Hershey AD. Current approaches to the diagnosis and management of paediatric migraine. Lancet Neurol. 2010;9:190–204.
   PubMed Web of Science ®Google Scholar
• Headache Classification Committee of the International Headache Society (IHS). The international classification of headache disorders, 3rd edition (beta version). Cephalalgia. 2013;33:629–808.
   PubMed Web of Science ®Google Scholar
• Lampl C. Childhood-onset cluster headache. Pediatr Neurol. 2002;27:138–140.
   PubMed Web of Science ®Google Scholar
• Yorns WR Jr, Hardison HH. Mitochondrial dysfunction in migraine. Semin Pediatr Neurol. 2013;20:188–193.
   PubMed Web of Science ®Google Scholar
• Ross-Araujo D, Stuart S, Lea RA, et al. Epigenetics and migraine; complex mitochondrial interactions contributing to disease susceptibility. Gene. 2014;543:1–7.
   PubMed Web of Science ®Google Scholar
• Wheless JW. History of the ketogenic diet. Epilepsia. 2008;49:3–5.
   PubMed Web of Science ®Google Scholar
• Cullingford T. The ketogenic diet; fatty acids, fatty acid-activated receptors and neurological disorders. Prostaglandins Leukot Essent Fatty Acids. 2004;70:253–264.
   PubMed Web of Science ®Google Scholar
• Maalouf Sullivan PG, Davis L, Kim DY, et al. Ketones inhibit mitochondrial production of reactive oxygen species production following glutamate excitotoxicity by increasing NADH oxidation. Neuroscience. 2007;145:256–264.
   PubMed Web of Science ®Google Scholar
• de Almeida Rabello Oliveira M, da Rocha Ataíde T, de Oliveira SL, et al. Effects of short-term and long-term treatment with medium- and long-chain triglycerides ketogenic diet on cortical spreading depression in young rats. Neurosci Lett. 2008;434:66–70.
   PubMed Web of Science ®Google Scholar
• American Psychiatric Association. Diagnostic and statistical manual of mental disorders, fifth edition (DSM-5). Washington, DC: American Psychiatric Association; 2013.
   Google Scholar
• Accordino RE, Kidd C, Politte LC, et al. Psychopharmacological interventions in autism spectrum disorder. Expert Opin Pharmacother. 2016;17:937–952.
   PubMed Web of Science ®Google Scholar
• Longden E, Read J. Assessing and reporting the adverse effects of antipsychotic medication: a systematic review of clinical studies, and prospective, retrospective, and cross-sectional research. Clin Neuropharmacol. 2016;39:29–39.
   PubMed Web of Science ®Google Scholar
• Mantis JG, Fritz CL, Marsh J, et al. Improvement in motor and exploratory behavior in Rett syndrome mice with restricted ketogenic and standard diets. Epilepsy Behav. 2009;15:133–141.
   PubMed Web of Science ®Google Scholar
• Ruskin DN, Svedova J, CoteJ L, et al. Ketogenic diet improves core symptoms of autism in BTBR mice. PloS One. 2013;8:e65021.
   PubMed Web of Science ®Google Scholar
• Castro K, Baronio D, Perry IS, et al. The effect of ketogenic diet in an animal model of autism induced by prenatal exposure to valproic acid. Nutr Neurosci. 2016 Feb 9:1–8. doi:10.1080/1028415X.2015.1133029.
   Google Scholar
• Hara H. Autism and epilepsy: a retrospective follow-up study. Brain Dev. 2007;29:486–490.
   PubMed Web of Science ®Google Scholar
• Tuchman R, Rapin I. Epilepsy in autism. Lancet Neurol. 2002;1:352–358.
   PubMed Web of Science ®Google Scholar
• El Achkar CM, Spence SJ. Clinical characteristics of children and young adults with co-occurring autism spectrum disorder and epilepsy. Epilepsy Behav. 2015;47:183–190.
   PubMed Web of Science ®Google Scholar
• Shavelle RM, Strauss DJ, Pickett J. Causes of death in autism. J Autism Dev Disord. 2001;31:569–576.
   PubMed Web of Science ®Google Scholar
• Jabbari K, Nürnberg P. A genomic view on epilepsy and autism candidate genes. Genomics. 2016;108:31–36.
   PubMed Web of Science ®Google Scholar
• Frye RE, Rossignol DA. Identification and treatment of pathophysiological comorbidities of autism spectrum disorder to achieve optimal outcomes. Clin Med Insights Pediatr. 2016;10:43–56.
   PubMedGoogle Scholar
• Levy RG, Cooper PN, Giri P. Ketogenic diet and other dietary treatments for epilepsy. Cochrane Database Syst Rev. 2012 Mar 14;3:CD001903.
   PubMed Web of Science ®Google Scholar
• Frye RE, Sreenivasula S, Adams JB. Traditional and non-traditional treatments for autism spectrum disorder with seizures: an on-line survey. BMC Pediatr. 2011;11:37.
   PubMed Web of Science ®Google Scholar
• Herbert MR, Buckley JA. Autism and dietary therapy: case report and review of the literature. J Child Neurol. 2013;28:975–982.
   PubMed Web of Science ®Google Scholar