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Combined oxidative phosphorylation deficiency 46(COXPD46)

MedGen UID:
1752252
Concept ID:
C5436466
Disease or Syndrome
Synonyms: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
 
Gene (location): MRPS23 (17q22)
 
Monarch Initiative: MONDO:0033534
OMIM®: 618952

Clinical features

From HPO
Decreased liver function
MedGen UID:
65430
Concept ID:
C0232744
Finding
Reduced ability of the liver to perform its functions.
Decreased activity of mitochondrial complex I
MedGen UID:
393796
Concept ID:
C2677650
Finding
A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.
Decreased activity of mitochondrial complex IV
MedGen UID:
866520
Concept ID:
C4020800
Finding
A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.

Professional guidelines

PubMed

Alikhani M, Saberi S, Esmaeili M, Michel V, Tashakoripour M, Abdirad A, Aghakhani A, Eybpoosh S, Vosough M, Mohagheghi MA, Eshagh Hosseini M, Touati E, Mohammadi M
Iran Biomed J 2021 Sep 1;25(5):323-33. Epub 2021 Aug 22 doi: 10.52547/ibj.25.5.323. PMID: 34425651Free PMC Article
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E
J Inherit Metab Dis 2016 Mar;39(2):243-52. Epub 2015 Oct 16 doi: 10.1007/s10545-015-9894-9. PMID: 26475597
Pavanello S, Snenghi R, Nalesso A, Sartore D, Ferrara SD, Montisci M
Alcohol 2012 Feb;46(1):61-8. Epub 2011 Sep 14 doi: 10.1016/j.alcohol.2011.08.009. PMID: 21917409

Recent clinical studies

Etiology

Ma YH, Yang Y, Li JH, Yao BC, Chen QL, Wang LQ, Guo ZG, Guo SZ
Medicine (Baltimore) 2023 Nov 17;102(46):e36133. doi: 10.1097/MD.0000000000036133. PMID: 37986300Free PMC Article
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP
J Inherit Metab Dis 2023 Jul;46(4):554-572. Epub 2023 Jun 6 doi: 10.1002/jimd.12636. PMID: 37243446Free PMC Article
Liu G, Ni C, Zhan J, Li W, Luo J, Liao Z, Locascio JJ, Xian W, Chen L, Pei Z, Corvol JC, Maple-Grødem J, Campbell MC, Elbaz A, Lesage S, Brice A, Hung AY, Schwarzschild MA, Hayes MT, Wills AM, Ravina B, Shoulson I, Taba P, Kõks S, Beach TG, Cormier-Dequaire F, Alves G, Tysnes OB, Perlmutter JS, Heutink P, van Hilten JJ, Barker RA, Williams-Gray CH, Scherzer CR; International Genetics of Parkinson Disease Progression (IGPP) Consortium
Brain 2023 Jan 5;146(1):42-49. doi: 10.1093/brain/awac327. PMID: 36343661Free PMC Article
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S
J Inherit Metab Dis 2023 May;46(3):482-519. Epub 2022 Nov 17 doi: 10.1002/jimd.12566. PMID: 36221165
Martens LG, Luo J, Wermer MJH, Willems van Dijk K, Hägg S, Grassmann F, Noordam R, van Heemst D
Atherosclerosis 2022 Aug;354:1-7. Epub 2022 Jun 19 doi: 10.1016/j.atherosclerosis.2022.06.1012. PMID: 35793595

Diagnosis

Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S
J Inherit Metab Dis 2023 Nov;46(6):1170-1185. Epub 2023 Sep 11 doi: 10.1002/jimd.12667. PMID: 37540500Free PMC Article
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP
J Inherit Metab Dis 2023 Jul;46(4):554-572. Epub 2023 Jun 6 doi: 10.1002/jimd.12636. PMID: 37243446Free PMC Article
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S
J Inherit Metab Dis 2023 May;46(3):482-519. Epub 2022 Nov 17 doi: 10.1002/jimd.12566. PMID: 36221165
Martens LG, Luo J, Wermer MJH, Willems van Dijk K, Hägg S, Grassmann F, Noordam R, van Heemst D
Atherosclerosis 2022 Aug;354:1-7. Epub 2022 Jun 19 doi: 10.1016/j.atherosclerosis.2022.06.1012. PMID: 35793595
Fournier E, Tabti N
Handb Clin Neurol 2019;161:269-280. doi: 10.1016/B978-0-444-64142-7.00053-9. PMID: 31307605

Therapy

Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP
J Inherit Metab Dis 2023 Jul;46(4):554-572. Epub 2023 Jun 6 doi: 10.1002/jimd.12636. PMID: 37243446Free PMC Article
Zhu XF, Sun ZL, Ma J, Hu B, Yu MC, Liu XJ, Yang P, Xu Y, Ju D, Mu Q
Phytother Res 2023 Feb;37(2):592-610. Epub 2022 Sep 30 doi: 10.1002/ptr.7637. PMID: 36180975
Martens LG, Luo J, Wermer MJH, Willems van Dijk K, Hägg S, Grassmann F, Noordam R, van Heemst D
Atherosclerosis 2022 Aug;354:1-7. Epub 2022 Jun 19 doi: 10.1016/j.atherosclerosis.2022.06.1012. PMID: 35793595
Russell E, Albert A, Côté H, Hsieh A, Nesbitt A, Campbell AR, Maan EJ, Brophy J, Pick N, Murray M
HIV Med 2020 Aug;21(7):418-428. Epub 2020 Mar 13 doi: 10.1111/hiv.12843. PMID: 32168418
Bartlett K, Ghneim HK, Stirk HJ, Wastell H
J Inherit Metab Dis 1985;8 Suppl 1:46-52. doi: 10.1007/BF01800659. PMID: 2864473

Prognosis

Ma YH, Yang Y, Li JH, Yao BC, Chen QL, Wang LQ, Guo ZG, Guo SZ
Medicine (Baltimore) 2023 Nov 17;102(46):e36133. doi: 10.1097/MD.0000000000036133. PMID: 37986300Free PMC Article
Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S
J Inherit Metab Dis 2023 Nov;46(6):1170-1185. Epub 2023 Sep 11 doi: 10.1002/jimd.12667. PMID: 37540500Free PMC Article
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP
J Inherit Metab Dis 2023 Jul;46(4):554-572. Epub 2023 Jun 6 doi: 10.1002/jimd.12636. PMID: 37243446Free PMC Article
Qiu X, Li Y, Zhang Z
Cell Oncol (Dordr) 2023 Aug;46(4):847-865. Epub 2023 Apr 11 doi: 10.1007/s13402-023-00801-0. PMID: 37040057
Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Ogawa-Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y
Int J Cardiol 2021 Oct 15;341:48-55. Epub 2021 Jul 21 doi: 10.1016/j.ijcard.2021.06.042. PMID: 34298071

Clinical prediction guides

Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S
J Inherit Metab Dis 2023 Nov;46(6):1170-1185. Epub 2023 Sep 11 doi: 10.1002/jimd.12667. PMID: 37540500Free PMC Article
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP
J Inherit Metab Dis 2023 Jul;46(4):554-572. Epub 2023 Jun 6 doi: 10.1002/jimd.12636. PMID: 37243446Free PMC Article
van Outersterp RE, Engelke UFH, Merx J, Berden G, Paul M, Thomulka T, Berkessel A, Huigen MCDG, Kluijtmans LAJ, Mecinović J, Rutjes FPJT, van Karnebeek CDM, Wevers RA, Boltje TJ, Coene KLM, Martens J, Oomens J
Anal Chem 2021 Nov 23;93(46):15340-15348. Epub 2021 Nov 10 doi: 10.1021/acs.analchem.1c02896. PMID: 34756024Free PMC Article
Hedberg-Oldfors C, Lindgren U, Basu S, Visuttijai K, Lindberg C, Falkenberg M, Larsson Lekholm E, Oldfors A
Brain Pathol 2021 May;31(3):e12931. doi: 10.1111/bpa.12931. PMID: 33354847Free PMC Article
Hulgan T, Samuels DC, Bush W, Ellis RJ, Letendre SL, Heaton RK, Franklin DR, Straub P, Murdock DG, Clifford DB, Collier AC, Gelman BB, Marra CM, McArthur JC, McCutchan JA, Morgello S, Simpson DM, Grant I, Kallianpur AR; CHARTER Group
Clin Infect Dis 2015 Nov 1;61(9):1476-84. Epub 2015 Jun 30 doi: 10.1093/cid/civ527. PMID: 26129753Free PMC Article

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