Cytochrome c oxidase deficiency
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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.
Beskrivning
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
Patient information leaflet
Kan jag ta Vitamin B12 och Vitamin C tillsammans?
G6PD deficiency Very high doses of vitamin C can cause oxidative stress and lead to the breakdown of red blood cells (haemolysis) in individuals with G6PD deficiency. Food and drink warnings Alcohol It is bes... Our Medicines Interaction Checker helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to.
Patient information leaflet
Kan jag ta svart cohosh och vitamin C tillsammans?
I... Why this happens Black cohosh and vitamin C are processed by the body through different pathways. Vitamin C is a water-soluble vitamin that does not significantly interfere with the liver enzymes (such as the Cytochrome P450 system) that process black cohosh. Additionally, they do not have overlapping effects that would cause a dangerous.
Patient information leaflet
Kan jag ta svart cohosh och glukosamin tillsammans?
Both are generally c... Why this happens These two substances are processed by the body through different pathways. Glukosamin is an amino sugar used by the body to build cartilage, while black cohosh is a herbal remedy that primarily affects hormonal pathways or neurotransmitters. They do not compete for the same enzymes in the liver (such as.
Patient information leaflet
Kan jag ta folsyra och vitamin C tillsammans?
In fact, taking them together is generally considered beneficial. Vitamin C can help prevent the breakdown of folic acid in the stomach, potentially making it easier for your body to use. Why this happens Vitamin C (ascorbic acid) acts as an antioxidant that helps stabilise folate (folic acid) in the digestive tract, protecting it from oxidative.
Patient information leaflet
Kan jag ta Glukosamin och Johannesört tillsammans?
T... It is generally considered safe to take these two supplements together. Why this happens Glucosamine is primarily used by the body to build cartilage and does not significantly affect the liver enzymes (Cytochrome P450) that St John's wort is known to influence. St John's wort works by altering brain chemicals and speeding up the breakdown of.
Patient information leaflet
Kejsarsnitt
You can restart activities such as driving, carrying heavy items, exercise and having sex once you feel you have fully recovered (including any pain or physical restrictions). The National Institute for Health and Care Excellence (NICE) have updated guidance on maternal choice for caesarean birth - for those women or pregnant persons with no.
Vidare läsning och referenser
- 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.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
17 aug 2023 | Senaste versionen
1 Oct 2012 | Ursprungligen publicerad
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