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Leigh syndrome due to mitochondrial complex IV deficiency

MedGen UID:
338082
•Concept ID:
C1850599
•
Disease or Syndrome
Synonym: Leigh syndrome due to COX IV deficiency

Authors:
Shamima Rahman  |  David Thorburn   view full author information

Professional guidelines

PubMed

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J
J Inherit Metab Dis 2012 Sep;35(5):749-59. Epub 2012 Jan 10 doi: 10.1007/s10545-011-9440-3. PMID: 22231385
Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency.
Darin N, Moslemi AR, Lebon S, Rustin P, Holme E, Oldfors A, Tulinius M
Neuropediatrics 2003 Dec;34(6):311-7. doi: 10.1055/s-2003-44670. PMID: 14681757
Diagnosis and treatment of childhood mitochondrial diseases.
Gropman AL
Curr Neurol Neurosci Rep 2001 Mar;1(2):185-94. doi: 10.1007/s11910-001-0015-9. PMID: 11898515

Recent clinical studies

Etiology

Cytochrome c oxidase deficiency: patients and animal models.
Diaz F
Biochim Biophys Acta 2010 Jan;1802(1):100-10. Epub 2009 Aug 11 doi: 10.1016/j.bbadis.2009.07.013. PMID: 19682572
Neuropathology of mitochondrial diseases.
Filosto M, Tomelleri G, Tonin P, Scarpelli M, Vattemi G, Rizzuto N, Padovani A, Simonati A
Biosci Rep 2007 Jun;27(1-3):23-30. doi: 10.1007/s10540-007-9034-3. PMID: 17541738
Human cytochrome oxidase deficiency.
Robinson BH
Pediatr Res 2000 Nov;48(5):581-5. doi: 10.1203/00006450-200011000-00004. PMID: 11044474
Nuclear gene defects in mitochondrial disorders.
Zeviani M, Corona P, Nijtmans L, Tiranti V
Ital J Neurol Sci 1999 Dec;20(6):401-8. doi: 10.1007/s100720050059. PMID: 10937860
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR
Ann Neurol 1996 Mar;39(3):343-51. doi: 10.1002/ana.410390311. PMID: 8602753

Diagnosis

Mitochondrial vulnerability and increased susceptibility to nutrient-induced cytotoxicity in fibroblasts from leigh syndrome French canadian patients.
Burelle Y, Bemeur C, Rivard ME, Thompson Legault J, Boucher G; LSFC Consortium, Morin C, Coderre L, Des Rosiers C
PLoS One 2015;10(3):e0120767. Epub 2015 Apr 2 doi: 10.1371/journal.pone.0120767. PMID: 25835550Free PMC Article
Diagnosis and treatment of childhood mitochondrial diseases.
Gropman AL
Curr Neurol Neurosci Rep 2001 Mar;1(2):185-94. doi: 10.1007/s11910-001-0015-9. PMID: 11898515
Cytochrome c oxidase deficiency.
Shoubridge EA
Am J Med Genet 2001 Spring;106(1):46-52. doi: 10.1002/ajmg.1378. PMID: 11579424
Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications.
Makino M, Horai S, Goto Y, Nonaka I
J Hum Genet 2000;45(2):69-75. doi: 10.1007/s100380050014. PMID: 10721666
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR
Ann Neurol 1996 Mar;39(3):343-51. doi: 10.1002/ana.410390311. PMID: 8602753

Therapy

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.
Blanchet L, Smeitink JA, van Emst-de Vries SE, Vogels C, Pellegrini M, Jonckheere AI, Rodenburg RJ, Buydens LM, Beyrath J, Willems PH, Koopman WJ
Sci Rep 2015 Jan 26;5:8035. doi: 10.1038/srep08035. PMID: 25620325Free PMC Article
Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.
Komaki H, Nishigaki Y, Fuku N, Hosoya H, Murayama K, Ohtake A, Goto Y, Wakamoto H, Koga Y, Tanaka M
Biochim Biophys Acta 2010 Mar;1800(3):313-5. Epub 2009 Jul 17 doi: 10.1016/j.bbagen.2009.07.008. PMID: 19616603
Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency.
Goldenberg PC, Steiner RD, Merkens LS, Dunaway T, Egan RA, Zimmerman EA, Nesbit G, Robinson B, Kennaway NG
Neurology 2003 Mar 11;60(5):865-8. doi: 10.1212/01.wnl.0000049460.72439.7f. PMID: 12629249
Mitochondrial encephalomyopathies and cytochrome c oxidase deficiency: muscle culture study.
Nonaka I, Koga Y, Kikuchi A, Goto Y
Acta Neuropathol 1991;82(4):286-94. doi: 10.1007/BF00308814. PMID: 1662001
Ketogenic effects of carnitine in patients with muscular dystrophy and cytochrome oxidase deficiency.
Paulson DJ, Hoganson GE, Traxler J, Sufit R, Peters H, Shug AL
Biochem Med Metab Biol 1988 Feb;39(1):40-7. doi: 10.1016/0885-4505(88)90056-4. PMID: 2833295

Prognosis

Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome.
Kotecha S, Kairamkonda V
BMJ Case Rep 2019 Jul 15;12(7) doi: 10.1136/bcr-2019-229668. PMID: 31308188Free PMC Article
Long survival in Leigh syndrome: new cases and review of literature.
Aulbert W, Weigt-Usinger K, Thiels C, Köhler C, Vorgerd M, Schreiner A, Hoffjan S, Rothoeft T, Wortmann SB, Heyer CM, Podskarbi T, Lücke T
Neuropediatrics 2014 Dec;45(6):346-53. Epub 2014 Aug 11 doi: 10.1055/s-0034-1383823. PMID: 25111564
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR
Am J Hum Genet 2014 Feb 6;94(2):209-22. Epub 2014 Jan 23 doi: 10.1016/j.ajhg.2013.12.015. PMID: 24462369Free PMC Article
SURF1-associated Leigh syndrome: a case series and novel mutations.
Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ
Hum Mutat 2012 Aug;33(8):1192-200. Epub 2012 Apr 30 doi: 10.1002/humu.22095. PMID: 22488715
Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications.
Makino M, Horai S, Goto Y, Nonaka I
J Hum Genet 2000;45(2):69-75. doi: 10.1007/s100380050014. PMID: 10721666

Clinical prediction guides

Genetic heterogeneity of mitochondrial genome in thiamine deficient Leigh syndrome patients.
Mani S, Rao SN, Kranthi Kumar MV
J Neurol Sci 2019 Sep 15;404:91-100. Epub 2019 Jul 10 doi: 10.1016/j.jns.2019.07.007. PMID: 31352295
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR
Am J Hum Genet 2014 Feb 6;94(2):209-22. Epub 2014 Jan 23 doi: 10.1016/j.ajhg.2013.12.015. PMID: 24462369Free PMC Article
SURF1-associated Leigh syndrome: a case series and novel mutations.
Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ
Hum Mutat 2012 Aug;33(8):1192-200. Epub 2012 Apr 30 doi: 10.1002/humu.22095. PMID: 22488715
Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.
Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M, Corti S, Bresolin N, Comi GP
J Neurol Sci 2009 Jun 15;281(1-2):85-92. Epub 2009 Mar 10 doi: 10.1016/j.jns.2009.01.025. PMID: 19278689
Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration.
Di Donato S
J Inherit Metab Dis 2000 May;23(3):247-63. doi: 10.1023/a:1005684029429. PMID: 10863941

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