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Cytochrome c oxidase I deficiency

MedGen UID:
865039
Concept ID:
C4016602
Finding
Synonym: CYTOCHROME c OXIDASE I DEFICIENCY
 
OMIM®: 516030

Professional guidelines

PubMed

Kakafika MG, Lyta AA, Gavriilidis GI, Tsiftsoglou SA, Miliotou AN, Pappas IS, Vizirianakis IS, Papadopoulou LC, Tsiftsoglou AS
Int J Oncol 2024 Apr;64(4) Epub 2024 Mar 1 doi: 10.3892/ijo.2024.5630. PMID: 38426621Free PMC Article
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
Ruitenbeek W, Wendel U, Hamel BC, Trijbels JM
J Inherit Metab Dis 1996;19(4):581-7. doi: 10.1007/BF01799118. PMID: 8884581

Recent clinical studies

Etiology

Rothwell S, Lilleker JB, Lamb JA
Curr Opin Rheumatol 2017 Nov;29(6):639-644. doi: 10.1097/BOR.0000000000000431. PMID: 28777108Free PMC Article
McMillin JB, Dowhan W
Biochim Biophys Acta 2002 Dec 30;1585(2-3):97-107. doi: 10.1016/s1388-1981(02)00329-3. PMID: 12531542
Schapira AH
Curr Opin Neurol 2000 Oct;13(5):527-32. doi: 10.1097/00019052-200010000-00004. PMID: 11073358
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979
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

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
Chen Z, Zhong C
Prog Neurobiol 2013 Sep;108:21-43. Epub 2013 Jul 11 doi: 10.1016/j.pneurobio.2013.06.004. PMID: 23850509
Schmiedel J, Jackson S, Schäfer J, Reichmann H
J Neurol 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. PMID: 12638015
Shoubridge EA
Am J Med Genet 2001 Spring;106(1):46-52. doi: 10.1002/ajmg.1378. PMID: 11579424
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979

Therapy

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
Ambang T, Tan JS, Ong S, Wong KT, Goh KJ
PLoS One 2016;11(9):e0162760. Epub 2016 Sep 9 doi: 10.1371/journal.pone.0162760. PMID: 27611456Free PMC Article
Lalioti V, Muruais G, Tsuchiya Y, Pulido D, Sandoval IV
Front Biosci (Landmark Ed) 2009 Jun 1;14(13):4878-903. doi: 10.2741/3575. PMID: 19482593
Schapira AH
Curr Opin Neurol 2000 Oct;13(5):527-32. doi: 10.1097/00019052-200010000-00004. PMID: 11073358
Müller-Höcker J
Brain Pathol 1992 Apr;2(2):149-58. doi: 10.1111/j.1750-3639.1992.tb00683.x. PMID: 1341956

Prognosis

Switzer CH, Kasamatsu S, Ihara H, Eaton P
Proc Natl Acad Sci U S A 2023 Jan 17;120(3):e2205044120. Epub 2023 Jan 11 doi: 10.1073/pnas.2205044120. PMID: 36630448Free PMC Article
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R
Brain 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. PMID: 33855352
Simard ML, Mourier A, Greaves LC, Taylor RW, Stewart JB
J Pathol 2018 Jul;245(3):311-323. Epub 2018 May 14 doi: 10.1002/path.5084. PMID: 29660116Free PMC Article
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
Percival SS
Am J Clin Nutr 1998 May;67(5 Suppl):1064S-1068S. doi: 10.1093/ajcn/67.5.1064S. PMID: 9587153

Clinical prediction guides

Choong CJ, Okuno T, Ikenaka K, Baba K, Hayakawa H, Koike M, Yokota M, Doi J, Kakuda K, Takeuchi T, Kuma A, Nakamura S, Nagai Y, Nagano S, Yoshimori T, Mochizuki H
Autophagy 2021 Oct;17(10):2962-2974. Epub 2020 Dec 10 doi: 10.1080/15548627.2020.1848130. PMID: 33218272Free PMC Article
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
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
Percival SS
Am J Clin Nutr 1998 May;67(5 Suppl):1064S-1068S. doi: 10.1093/ajcn/67.5.1064S. PMID: 9587153
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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