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Mitochondrial cytochrome c oxidase deficiency

MedGen UID:
865063
•Concept ID:
C4016626
•
Finding
Synonym: MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
 
OMIM®: 590080

Professional guidelines

PubMed

Repurposing elesclomol, an investigational drug for the treatment of copper metabolism disorders.
Gohil VM
Expert Opin Investig Drugs 2021 Jan;30(1):1-4. Epub 2020 Nov 5 doi: 10.1080/13543784.2021.1840550. PMID: 33081534Free 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
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

Recent clinical studies

Etiology

A case of mitochondrial myopathy, encephalopathy and lactic acidosis due to cytochrome c oxidase deficiency with neurogenic muscular changes.
Jinnai K, Yamada H, Kanda F, Masui Y, Tanaka M, Ozawa T, Fujita T
Eur Neurol 1990;30(1):56-60. doi: 10.1159/000116641. PMID: 2153548

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

Therapy

Alterations of sirtuins in mitochondrial cytochrome c-oxidase deficiency.
Potthast AB, Heuer T, Warneke SJ, Das AM
PLoS One 2017;12(10):e0186517. Epub 2017 Oct 23 doi: 10.1371/journal.pone.0186517. PMID: 29059204Free PMC Article
Suramin-induced weakness from hypophosphatemia and mitochondrial myopathy. Association of suramin with mitochondrial toxicity in humans.
Rago RP, Miles JM, Sufit RL, Spriggs DR, Wilding G
Cancer 1994 Apr 1;73(7):1954-9. doi: 10.1002/1097-0142(19940401)73:7<1954::aid-cncr2820730729>3.0.co;2-h. PMID: 8137223
A case of mitochondrial myopathy, encephalopathy and lactic acidosis due to cytochrome c oxidase deficiency with neurogenic muscular changes.
Jinnai K, Yamada H, Kanda F, Masui Y, Tanaka M, Ozawa T, Fujita T
Eur Neurol 1990;30(1):56-60. doi: 10.1159/000116641. PMID: 2153548

Prognosis

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

Clinical prediction guides

Alterations of sirtuins in mitochondrial cytochrome c-oxidase deficiency.
Potthast AB, Heuer T, Warneke SJ, Das AM
PLoS One 2017;12(10):e0186517. Epub 2017 Oct 23 doi: 10.1371/journal.pone.0186517. PMID: 29059204Free 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
Suramin-induced weakness from hypophosphatemia and mitochondrial myopathy. Association of suramin with mitochondrial toxicity in humans.
Rago RP, Miles JM, Sufit RL, Spriggs DR, Wilding G
Cancer 1994 Apr 1;73(7):1954-9. doi: 10.1002/1097-0142(19940401)73:7<1954::aid-cncr2820730729>3.0.co;2-h. PMID: 8137223

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