Cytochrome c oxidase deficiency
Last updated 17 Aug 2023
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Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals.
Description
Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals.
The severity of cytochrome c oxidase deficiency varies widely among affected individuals, even among those in the same family. People who are mildly affected tend to have muscle weakness (myopathy) and poor muscle tone (hypotonia) with no other related health problems. More severely affected people have problems in multiple body systems, often including severe brain dysfunction (encephalomyopathy). Approximately one-quarter of individuals with cytochrome c oxidase deficiency have a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Another possible feature of this condition is an enlarged liver (hepatomegaly), which may lead to liver failure. Most individuals with cytochrome c oxidase deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can cause nausea and an irregular heart rate, and can be life-threatening.
Many people with cytochrome c oxidase deficiency have a specific group of features known as Leigh syndrome. The signs and symptoms of Leigh syndrome include loss of mental function, movement problems, hypertrophic cardiomyopathy, eating difficulties, and brain abnormalities. Cytochrome c oxidase deficiency is one of the many causes of Leigh syndrome.
Many individuals with cytochrome c oxidase deficiency do not survive past childhood, although some individuals with mild signs and symptoms live into adolescence or adulthood.
Inheritance patterns
The source lists the following possible inheritance patterns: mitochondrial; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Complex IV deficiency
COX deficiency
Cytochrome-c oxidase deficiency
Mitochondrial complex IV deficiency
Related patient information and medicines
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Further reading and references
- Cytochrome c oxidase deficiency; MedlinePlus, National Library of Medicine.
- Bohm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J. Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. Pediatr Res. 2006 Jan;59(1):21-6. doi: 10.1203/01.pdr.0000190572.68191.13. Epub 2005 Dec 2.
- Du A, Naviaux RK, Le T, Xu C, Sommer SS, Haas RH. Fibroblast immuno-diagnosis of cytochrome oxidase (COX) deficiency in mitochondrial disease. Mitochondrion. 2011 May;11(3):430-6. doi: 10.1016/j.mito.2010.12.014. Epub 2010 Dec 25.
- Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 Dec;19(12):10.1038/gim.2017.107. doi: 10.1038/gim.2017.107. Epub 2017 Jul 27.
- Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015 Sep;17(9):689-701. doi: 10.1038/gim.2014.177. Epub 2014 Dec 11.
- Rak M, Benit P, Chretien D, Bouchereau J, Schiff M, El-Khoury R, Tzagoloff A, Rustin P. Mitochondrial cytochrome c oxidase deficiency. Clin Sci (Lond). 2016 Mar;130(6):393-407. doi: 10.1042/CS20150707.
- Ugalde C, Coenen MJ, Farhoud MH, Gilinsky S, Koopman WJ, van den Heuvel LP, Smeitink JA, Nijtmans LG. New perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase. Mitochondrion. 2002 Nov;2(1-2):117-28. doi: 10.1016/s1567-7249(02)00012-0.
- Vondrackova A, Vesela K, Hansikova H, Docekalova DZ, Rozsypalova E, Zeman J, Tesarova M. High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency. J Hum Genet. 2012 Jul;57(7):442-8. doi: 10.1038/jhg.2012.49. Epub 2012 May 17.
- Wortmann SB, Mayr JA, Nuoffer JM, Prokisch H, Sperl W. A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. Neuropediatrics. 2017 Aug;48(4):309-314. doi: 10.1055/s-0037-1603776. Epub 2017 Jun 9. No abstract available.
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