Mitochondrial diseases in childhood: a clinical approach to investigation and management

Developmental Medicine and Child Neurology

Volumn 52, Issue 5, 2010, Pages 422-433

  Kisler, Jill Edith ^a   Whittaker, Roger Graham ^b   Mcfarland, Robert ^a,b  

^a NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CARBAMAZEPINE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DNA DIRECTED DNA POLYMERASE GAMMA; ETIRACETAM; FUMARIC ACID; MALIC ACID; MITOCHONDRIAL DNA;

CARDIOMYOPATHY; CARDIOVASCULAR DISEASE; CEREBROSPINAL FLUID LEVEL; CHILD; CHILD HEALTH CARE; CHILDHOOD DISEASE; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EPILEPSY; EYE DISEASE; GASTROINTESTINAL DISEASE; GENE DELETION; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HETEROPLASMY; HUMAN; KETOGENIC DIET; LABORATORY TEST; LONG TERM CARE; MEDICAL DECISION MAKING; MITOCHONDRIAL GENETICS; MOTOR DYSFUNCTION; MUSCLE BIOPSY; NEUROIMAGING; NEUROLOGICAL COMPLICATION; NUTRITIONAL DISORDER; PATHOPHYSIOLOGY; PHYSIOTHERAPY; PRIORITY JOURNAL; PROGNOSIS; RESPIRATORY TRACT DISEASE; REVIEW; SKIN BIOPSY; SPEECH THERAPY;

CHILD; HUMANS; MITOCHONDRIAL DISEASES; MOVEMENT DISORDERS; PRACTICE GUIDELINES AS TOPIC;

EID: 77953157437     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2009.03605.x     Document Type: Review

References (74)

1. Sanderson S, Green A, Preece MA, Burton H. The incidence of inherited metabolic diseases in the West Midlands, UK. Arch Dis Child 2006, 91:896-9.
2. Skladal D, Halliday J, Thorburn DR. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 2003, 126:1905-12.
3. Schaefer AM, McFarland R, Blakely EL. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008, 63:35-9.
4. Manwaring N, Jones MM, Wang JJ. Population prevalence of the MELAS A3243G mutation. Mitochondrion 2007, 7:230-3.
5. Bitner-Glindzicz M, Pembrey M, Duncan A. Prevalence of mitochondrial 1555A→G mutation in European children. N Engl J Med 2009, 360:640-2.
6. Chan DC. Mitochondria: dynamic organelles in disease, aging and development. Cell 2006, 125:1241-52.
7. McFarland R, Taylor RW, Turnbull DM. Mitochondrial disease - its impact, etiology and pathology. Curr Top Dev Biol 2007, 77:113-46.
8. MITOMAP: a human mitochondrial genome database. http://www.mitomap.org, (accessed May 2009)
9. Greaves LC, Taylor RW. Mitochondrial DNA mutations in human disease. IUBMB Life 2006, 58:143-51.
10. Thorburn DR, Sugiana C, Salemi R. Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders. Biochem Biophys Acta 2004, 1659:121-8.
11. Chinnery PF, DiMauro S, Shanke S. Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004, 364:592-6.
12. Schwarz M, Vissing J. New patterns of inheritence in mitochondrial disease. Biochem Biophys Res Commun 2003, 310:247-51.
13. Brown DT, Samuels DC, Michael EM, Turnbull DM, Chinnery PF. Random genetic drift determines the level of mutant mtDNA in human primary oocytes. Am J Hum Genet 2001, 68:533-6.
14. Horvarth R, Hudson G, Ferrari G. Phenotypic spectrum associated with mutations of the polymerase gamma gene. Brain 2006, 129:1637-9.
15. McFarland R, Swalwell H, Blakely EL. The m.5650G→A mitochondrial tRNAA1a mutation is pathogenic and causes a phenotype of pure myopathy. Neuromuscul Disord 2008, 18:63-7.
16. Castro-Gago M, Pintos Martinez E, Eiris-Punal J. Epidemiology of paediatric mitochondrial respiratory chain disorders in north west Spain. Paediatr Neurol 2006, 3:204-11.
17. Wolf NI, Smeitink JAM. Mitochondrial disorders. A proposal for consensus diagnostic criteria in infants and children. Neurology 2002, 59:1402-5.
18. Morava E, van den Heuvel L, Hol F. Mitochondrial disease criteria. Diagnostic applications in children. Neurology 2006, 67:1823-6.
19. Morris AA, Appleton RE, Power B. Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy. J Inherit Metab Dis 2007, 30:100.
20. Scaglia F, Towbin JA, Craigen WJ. Clinical spectrum, morbidity and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004, 114:925-31.
21. Haas RH, Parikh S, Falk MJ. The in depth evaluation of suspected mitochondrial disease. Mol Genet Metab 2008, 94:16-37.
22. Chinnery PF. Mitochondrial disorders overview. 2006, http://www.ncbi.nlm.gov/bookshelf/br.fcgi?book=gene&part=mt-overview, (accessed October 2008)
23. Jackson MJ, Shaefer JA, Johnson MA, Morris AAM, Turnbull DM, Bindoff LA. Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. Brain 1995, 118:339-57.
24. Hutchesson A, Preece MA, Gray G, Green A. Measurement of lactate in cerebrospinal fluid in investigation of inherited metabolic disease. Clin Chem 1997, 43:158-61.
25. Chow SL, Rooney ZJ, Cleary MA, Clayton PT, Leonard JV. The significance of elevated CSF lactate. Arch Dis Child 2005, 90:1188-9.
26. Chace DH, Kalas TA. A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin Biochem 2005, 38:296-309.
27. Barshop BA. Metabolic approaches to mitochondrial disease: correlation of urine organic acids. Mitochondrion 2004, 4:521-7.
28. Bianchi MC, Sgandurra G, Tosetti M, Battini R, Cioni G. Brain magnetic resonance imaging in the diagnostic evaluation of mitochondrial encephalopathies. Biosci Rep 2007, 27:69-85.
29. Barkovich AJ, Good WV, Koch TK. Mitochondrial disorders: analysis of their clinical and imaging characteristics. Am J Neuroradiol 1993, 14:1119-37.
30. Smith JK, Mah JK, Castillo M. Brain MR imaging findings in two patients with Alpers' syndrome. Clin Imaging 1996, 20:235-7.
31. Haas RH, Dietrich R. Neuroimaging of mitochondrial disorders. Mitochondrion 2004, 4:471-90.
32. Jeppesen TD, Quistoriff B, Wibrand F. 31P-MRS of skeletal muscle is not a sensitive diagnostic test for mitochondrial myopathy. J Neurol 2007, 254:29-37.
33. Boyd SG, Harden A, Egger J, Pampiglione G. Progressive neuronal degeneration of childhood with liver disease (" Alpers' disease" ): characteristic neurophysiological features. Neuropediatrics 1986, 17:75-80.
34. Fujimoto S, Mizuno K, Shibata H. Serial electroencephalographic findings in patients with MELAS. Pediatr Neurol 1999, 20:43-8.
35. So N, Berkovic S, Andermann F, Kuzniecky R, Gendron D, Quesney LF. Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies. Brain 1989, 112:1261-76.
36. Santorelli FM, Tanji K, Shanske S, DiMauro S. Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. Neurology 1997, 49:270-3.
37. Kijima K, Numakura C, Izumino H. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. Hum Genet 2005, 116:23-7.
38. Merkwirth C, Langer T. Mitofusin 2 builds a bridge between ER and mitochondria. Cell 2008, 135:1165-7.
39. Miles MV, Miles L, Tang PH. Systematic evaluation of muscle coenzyme Q10 content in children with mitochondrial respiratory enzyme deficiencies. Mitochondrion 2008, 8:170-80.
40. Stacpoole PW, Kerr DS, Barnes C. Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. Pediatrics 2006, 117:1519-31.
41. Stacpoole PW, Henderson GN, Yan Z, Cornett R, James MO. Pharmacokinetics, metabolism and toxicology of dichloroacetate. Drug Metab Rev 1998, 30:499-539.
42. Kaufmann P, Engelstad K, Wei P. Dichloroacetate causes toxic neuropathy in MELAS. A randomized, controlled clinical trial. Neurology 2006, 66:324-33.
43. Koga Y, Akita Y, Nishioka J. L-arginine improves the symptoms of stroke like episodes in MELAS. Neurology 2005, 64:710-2.
44. Canafoglia L, Franceschetti S, Antozzi C. Epileptic phenotypes associated with mitochondrial disorders. Neurology 2001, 56:1340-6.
45. McFarland R, Hudson G, Taylor RW. Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1). Arch Dis Child 2008, 93:151-3.
46. 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 defects. Epilepsia 2007, 48:82-7.
47. Zwirner P, Wilichowski E. Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies. Laryngoscope 2001, 111:515-21.
48. Sinnatury AR, Raut V, Awa A, Magee A, Toner JG. A review of cochlear implantation in mitochondrial sensorineural hearing loss. Otol Neurontol 2003, 24:418-26.
49. Holmgren D, Wahlander H, Eriksson BO, Oldfors A, Holme E, Tulinius M. Cardiomyopathy in children with mitochondrial disease. Clinical course and cardiological findings. Eur Heart J 2003, 24:280-8.
50. Bione S, D'Adamo P, Maestrini E. A novel X- linked gene, G4.5 is responsible for Barth syndrome. Nature Genet 1996, 12:385-9.
51. Schlame M, Kelley RI, Feigenbaum A. Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol 2003, 42:1994-9.
52. Barth PG, Valianpour F, Bowen VM. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet 2004, 126A:349-54.
53. Chinnery PF, Bindoff LA. 116th ENMC international workshop: the treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, the Netherlands. Neuromuscul Disord 2003, 13:757-64.
54. Chinnery PF, Turnbull DM. Mitochondrial medicine. Q J Med 1997, 90:657-67.
55. Nishino I, Spinazzola A, Papadimitriou A. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000, 47:792-800.
56. Pearson HA, Lobel JS, Kocochis SA. A new syndrome of refractory sideroblastic anaemia with vacoulization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979, 95:976-84.
57. Hom XB, Lavine JL. Gastrointestinal complications of mitochondrial disease. Mitochondrion 2004, 4:601-7.
58. Stark R, Roden M. ESCI Award 2006. Mitochondrial function and endocrine diseases. Eur J Clin Invest 2007, 37:236-48.
59. Romano S, Samara D, Crosnier H. Variable outcome of growth hormone administration in respiratory chain deficiency. Mol Genet Metab 2008, 93:195-9.
60. Matsuzaki M, Izumi T, Shishikura K, Suzuki H, Hirayama Y. Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Neuropaediatrics 2002, 33:271-3.
61. Grattan-Smith PJ, Shield LK, Hopkins IJ, Collins KJ. Acute respiratory failure precipitated by general anaesthesia in Leigh's syndrome. J Child Neurol 1990, 5:137-41.
62. Footit EJ, Sinha MD, Raiman JAJ, Dhawan A, Moganasundrum S, Champion MP. Mitochondrial disorders and general anaesthesia: a case series and review. Br J Anaesth 2008, 100:436-41.
63. Chinnery PF, Marjarnaa K, Turnbull D, Thorburn D. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2006, (1). 10.1002/14651858.CD004426.pub2, DOI
64. Rotig A, Appelkvist EL, Geromel V. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet 2000, 356:391-5.
65. Hart PE, Lodi R, Rajagopalan B. Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up. Arch Neurol 2005, 62:621-6.
66. Scholte HR, Busch HFM, Bakker HD. Riboflavin-responsive complex I deficiency. Biochim Biophys Acta 1995, 1271:75-83.
67. Bugiani M, Lamantea E, Invernizzi F. Effects of riboflavin in children with complex II deficiency. Brain Dev 2006, 28:576-81.
68. Murphy JL, Blakeley EL, Schaefer AM. Resistance training in patients with single, large scale deletions of mitochondrial DNA. Brain 2008, 131:2832-40.
69. Taivassalo T, Haller RG. Exercise and training in mitochondrial myopathies. Med Sci Sports Exerc 2005, 37:2094-101.
70. Jeppesen TD, Schwartz M, Olsen DB. Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. Brain 2006, 129:3402-12.
71. Patten MA, Bates P, Charles-Edwards I. Witholding or withdrawal of life sustaining treatment in children. A framework for practice 2004, 2nd edn, London, RCPCH
72. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 1998, 121:1889-94.
73. Poulton J, Turnbull DM. 74th ENMC international workshop: mitochondrial diseases 19-20 November 1999, Naarden, the Netherlands. Neuromuscul Disord 2000, 10:460-2.
74. Poulton J, Kennedy S, Oakeshott P, Wells D. Preventing transmission of maternally inherited mitochondrial DNA diseases. BMJ 2009, 338:345-9.