Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) may respond to adjunctive ketogenic diet

Pediatric Neurology

Volumn 50, Issue 5, 2014, Pages 498-502

  Steriade, Claude ^a   Andrade, Danielle M ^a   Faghfoury, Hanna ^b   Tarnopolsky, Mark A ^c   Tai, Peter ^a  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY HEALTH NETWORK   (Canada)

^c MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

ketogenic diet; magnesium; MELAS; refractory seizures; respiratory chain complexes; status epilepticus

Indexed keywords

CARNITINE; CLOBAZAM; ETIRACETAM; FOLIC ACID; LACTIC ACID; LAMOTRIGINE; MAGNESIUM; MITOCHONDRIAL DNA; PHENYTOIN; UBIDECARENONE; VITAMIN B COMPLEX; VITAMIN D;

ADD ON THERAPY; ADULT; ARTICLE; CASE REPORT; CEREBRAL BLINDNESS; CEREBROSPINAL FLUID ANALYSIS; DNA SEQUENCE; ELECTROENCEPHALOGRAPHY; EPILEPTIC STATE; FEMALE; GENETIC SCREENING; HEADACHE; HETEROPLASMY; HUMAN; HUMAN CELL; KETOGENIC DIET; LACTATE BLOOD LEVEL; MELAS SYNDROME; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL GENOME; MUSCLE BIOPSY; MUSCLE TWITCH; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; POSTCENTRAL GYRUS; PRIORITY JOURNAL; RESPIRATORY CHAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; VISUAL DISORDER; YOUNG ADULT; BRAIN; DIET THERAPY; GENETICS; PATHOLOGY; PATHOPHYSIOLOGY;

BRAIN; ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; KETOGENIC DIET; MAGNETIC RESONANCE IMAGING; MELAS SYNDROME; YOUNG ADULT;

EID: 84904902421     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.01.009     Document Type: Article

References (16)

1. M.A. Tarnopolsky, E. Pearce, K. Smith, and B. Lach Suction-modified Bergström muscle biopsy technique: experience with 13,500 procedures Muscle Nerve 43 2011 717 725
2. M.C. Rodriguez, J.R. MacDonald, and D.J. Mahoney et al. Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders Muscle Nerve 35 2007 235 242
3. M. Hirano, E. Ricci, and M.R. Koenigsberger et al. MELAS: an original case and clinical criteria for diagnosis Neuromusc Disord 2 1992 125 135
4. M. Hirano, and S. DiMauro Primary mitochondrial diseases J. Engel, T.A. Pedley, Epilepsy: A Comprehensive Textbook 1997 Lippincott-Raven Publisher Philadelphia, PA
5. M. Zeviani, C. Mariotti, and C. Antozzi et al. OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy Muscle Nerve 3 1995 S170 S174
6. I. Nishino, Komatsu, and S. Kodama et al. The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) Muscle Nerve 19 1996 1603 1604
7. B.S. Connolly, A.S.J. Feigenbaum, and B.H. Robinson et al. MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation Biochem Biophys Res Commun 402 2010 443 447
8. R.G. Levy, P.N. Cooper, and P. Giri Ketogenic diet and other dietary treatments for epilepsy Cochrane Database Syst Rev 3 2012 CD001903
9. E.H. Kossoff, H. Rowley, S.R. Sinha, and E.P.G. Vining A prospective study of the modified Atkins diet for intractable epilepsy in adults Epilepsia 49 2008 316 319
10. H.C. Kang, Y.M. Lee, H.D. Kim, J.S. Lee, and A. Slama Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects Epilepsia 48 2007 82 88
11. M.H. Martikainen, M. Paivarinta, S. Jaaskelainen, and K. Majamaa Successful treatment of POLG-related mitochondrial epilepsy with antiepileptic drugs and low glycaemic index diet Epileptic Disord 14 2012 438 441
12. S. Santra, R.W. Gilkerson, M. Davidson, and E.A. Schon Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells Ann Neurol 56 2004 662 669
13. D. Fornuskova, O. Brantova, and M. Tesarova et al. The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues Biochim Biophys Acta 1782 2008 317 325
14. R.K. Hämäläinen, R. Manninen, and H. Koivumäki et al. Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model Proc Natl Acad Sci USA 110 2013 E3622 E3630
15. M.J. Roef, K. de Meer, and D.-J. Reijngoud et al. Triacylglycerol infusion improves exercise endurance in patients with mitochondrial myopathy due to complex I deficiency Am J Clin Nutr 75 2002 228 244
16. K. Majamaa, H. Rusanen, A. Remes, and I.E. Hassinen Metabolic interventions against complex I deficiency in MELAS syndrome Mol Cell Biochem 174 1997 291 296