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Cytochrome-c oxidase deficiency

MedGen UID:
75662
•Concept ID:
C0268237
•
Disease or Syndrome
Synonym: Cytochrome-c oxidase deficiency disease
SNOMED CT: Cytochrome-c oxidase deficiency (67434000); Cytochrome c oxidase deficiency (67434000); COX - Cytochrome C oxidase deficiency (67434000); Complex IV deficiency (67434000); Mitochondrial complex IV deficiency (67434000)
 
Monarch Initiative: MONDO:0009068
OMIM®: 220110; 516030; 516040; 516050; 590010

Definition

A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCytochrome-c oxidase deficiency
Follow this link to review classifications for Cytochrome-c oxidase deficiency in Orphanet.

Professional guidelines

PubMed

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
Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous.
Bourgeron T, Chrétien D, Rötig A, Munnich A, Rustin P
Prenat Diagn 1992 Jun;12(6):548-9. doi: 10.1002/pd.1970120614. PMID: 1325051
Prenatal diagnosis of cytochrome c oxidase deficiency by biopsy of chorionic villi.
Ruitenbeek W, Sengers R, Albani M, Trijbels F, Janssen A, van Diggelen O, Bakkeren J
N Engl J Med 1988 Oct 20;319(16):1095. doi: 10.1056/NEJM198810203191616. PMID: 2845269

Recent clinical studies

Etiology

Diagnosis and treatment of mitochondrial myopathies.
Pfeffer G, Chinnery PF
Ann Med 2013 Feb;45(1):4-16. Epub 2011 Aug 25 doi: 10.3109/07853890.2011.605389. PMID: 21867371Free PMC Article
Mitochondrial disorders.
Schapira AH
Curr Opin Neurol 2000 Oct;13(5):527-32. doi: 10.1097/00019052-200010000-00004. PMID: 11073358
Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979
Mitochondrial DNA and genetic disease.
Poulton J
Bioessays 1992 Nov;14(11):763-8. doi: 10.1002/bies.950141108. PMID: 1365889
Mitochondrial myopathies.
DiMauro S, Bonilla E, Zeviani M, Servidei S, DeVivo DC, Schon EA
J Inherit Metab Dis 1987;10 Suppl 1:113-28. doi: 10.1007/BF01812852. PMID: 2824920

Diagnosis

Mitochondrial cytochrome c oxidase deficiency.
Rak M, Bénit P, Chrétien D, Bouchereau J, Schiff M, El-Khoury R, Tzagoloff A, Rustin P
Clin Sci (Lond) 2016 Mar;130(6):393-407. doi: 10.1042/CS20150707. PMID: 26846578Free PMC Article
Diagnosis and treatment of mitochondrial myopathies.
Pfeffer G, Chinnery PF
Ann Med 2013 Feb;45(1):4-16. Epub 2011 Aug 25 doi: 10.3109/07853890.2011.605389. PMID: 21867371Free 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
Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979
Kinky hair disease: twenty five years later.
Menkes JH
Brain Dev 1988;10(2):77-9. doi: 10.1016/s0387-7604(88)80074-3. PMID: 2839049

Therapy

Diagnosis and treatment of mitochondrial myopathies.
Pfeffer G, Chinnery PF
Ann Med 2013 Feb;45(1):4-16. Epub 2011 Aug 25 doi: 10.3109/07853890.2011.605389. PMID: 21867371Free PMC Article
Mitochondrial disorders.
Schapira AH
Curr Opin Neurol 2000 Oct;13(5):527-32. doi: 10.1097/00019052-200010000-00004. PMID: 11073358
Myasthenia gravis during interferon alfa therapy.
Batocchi AP, Evoli A, Servidei S, Palmisani MT, Apollo F, Tonali P
Neurology 1995 Feb;45(2):382-3. doi: 10.1212/wnl.45.2.382. PMID: 7854543
Mitochondria and ageing.
Müller-Höcker J
Brain Pathol 1992 Apr;2(2):149-58. doi: 10.1111/j.1750-3639.1992.tb00683.x. PMID: 1341956
Diagnosis and treatment in a case of juvenile subacute necrotizing encephalopathy Leigh without cytochrome c oxidase deficiency.
Westarp ME, Holzgraefe M, Gallenkamp U, Thomas R, Bechinger D
Eur Neurol 1992;32(4):206-11. doi: 10.1159/000116823. PMID: 1324178

Prognosis

Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.
Kushnareva Y, Seong Y, Andreyev AY, Kuwana T, Kiosses WB, Votruba M, Newmeyer DD
Cell Death Dis 2016 Jul 28;7(7):e2309. doi: 10.1038/cddis.2016.160. PMID: 27468686Free PMC Article
Mitochondrial cytochrome c oxidase deficiency.
Rak M, Bénit P, Chrétien D, Bouchereau J, Schiff M, El-Khoury R, Tzagoloff A, Rustin P
Clin Sci (Lond) 2016 Mar;130(6):393-407. doi: 10.1042/CS20150707. PMID: 26846578Free PMC Article
Cytochrome oxidase deficiency in Lowe syndrome.
Cifelli PM, Hargreaves I, Grünewald S
J Inherit Metab Dis 2002 Sep;25(5):411-2. doi: 10.1023/a:1020112119716. PMID: 12408191
Cytochrome oxidase deficiency presenting as birth asphyxia.
Willis TA, Davidson J, Gray RG, Poulton K, Ramani P, Whitehouse W
Dev Med Child Neurol 2000 Jun;42(6):414-7. doi: 10.1017/s0012162200000761. PMID: 10875529
Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.
Garavaglia B, Colamaria V, Carrara F, Tonin P, Rimoldi M, Uziel G
J Inherit Metab Dis 1994;17(3):301-3. doi: 10.1007/BF00711813. PMID: 7807937

Clinical prediction guides

Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.
Kushnareva Y, Seong Y, Andreyev AY, Kuwana T, Kiosses WB, Votruba M, Newmeyer DD
Cell Death Dis 2016 Jul 28;7(7):e2309. doi: 10.1038/cddis.2016.160. PMID: 27468686Free PMC Article
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome.
Ravera S, Dufour C, Cesaro S, Bottega R, Faleschini M, Cuccarolo P, Corsolini F, Usai C, Columbaro M, Cipolli M, Savoia A, Degan P, Cappelli E
Sci Rep 2016 May 5;6:25441. doi: 10.1038/srep25441. PMID: 27146429Free PMC Article
Mitochondrial cytochrome c oxidase deficiency.
Rak M, Bénit P, Chrétien D, Bouchereau J, Schiff M, El-Khoury R, Tzagoloff A, Rustin P
Clin Sci (Lond) 2016 Mar;130(6):393-407. doi: 10.1042/CS20150707. PMID: 26846578Free PMC Article
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES
Proc Natl Acad Sci U S A 2003 Jan 21;100(2):605-10. Epub 2003 Jan 14 doi: 10.1073/pnas.242716699. PMID: 12529507Free PMC Article
Mitochondria and ageing.
Müller-Höcker J
Brain Pathol 1992 Apr;2(2):149-58. doi: 10.1111/j.1750-3639.1992.tb00683.x. PMID: 1341956

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