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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

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
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
Alharbi KS, Afzal O, Altamimi ASA, Almalki WH, Kazmi I, Al-Abbasi FA, Alzarea SI, Makeen HA, Albratty M
J Food Biochem 2022 Dec;46(12):e14471. Epub 2022 Oct 21 doi: 10.1111/jfbc.14471. PMID: 36268851
De Bus L, Depuydt P, Steen J, Dhaese S, De Smet K, Tabah A, Akova M, Cotta MO, De Pascale G, Dimopoulos G, Fujitani S, Garnacho-Montero J, Leone M, Lipman J, Ostermann M, Paiva JA, Schouten J, Sjövall F, Timsit JF, Roberts JA, Zahar JR, Zand F, Zirpe K, De Waele JJ; DIANA study group
Intensive Care Med 2020 Jul;46(7):1404-1417. Epub 2020 Jun 9 doi: 10.1007/s00134-020-06111-5. PMID: 32519003Free PMC Article

Diagnosis

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
Alharbi KS, Afzal O, Altamimi ASA, Almalki WH, Kazmi I, Al-Abbasi FA, Alzarea SI, Makeen HA, Albratty M
J Food Biochem 2022 Dec;46(12):e14471. Epub 2022 Oct 21 doi: 10.1111/jfbc.14471. PMID: 36268851
Fournier E, Tabti N
Handb Clin Neurol 2019;161:269-280. doi: 10.1016/B978-0-444-64142-7.00053-9. PMID: 31307605
Bassett D
Aust N Z J Psychiatry 2012 Apr;46(4):327-39. Epub 2012 Jan 11 doi: 10.1177/0004867411435289. PMID: 22508593

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
Mendham AE, Goedecke JH, Zeng Y, Larsen S, George C, Hauksson J, Fortuin-de Smidt MC, Chibalin AV, Olsson T, Chorell E
Diabetologia 2021 Jul;64(7):1642-1659. Epub 2021 Mar 26 doi: 10.1007/s00125-021-05430-6. PMID: 33770195Free PMC Article
De Bus L, Depuydt P, Steen J, Dhaese S, De Smet K, Tabah A, Akova M, Cotta MO, De Pascale G, Dimopoulos G, Fujitani S, Garnacho-Montero J, Leone M, Lipman J, Ostermann M, Paiva JA, Schouten J, Sjövall F, Timsit JF, Roberts JA, Zahar JR, Zand F, Zirpe K, De Waele JJ; DIANA study group
Intensive Care Med 2020 Jul;46(7):1404-1417. Epub 2020 Jun 9 doi: 10.1007/s00134-020-06111-5. PMID: 32519003Free PMC Article
Bartlett K, Ghneim HK, Stirk HJ, Wastell H
J Inherit Metab Dis 1985;8 Suppl 1:46-52. doi: 10.1007/BF01800659. PMID: 2864473
Sheehan JP, Seelig MS
Magnesium 1984;3(4-6):301-14. PMID: 6536839

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
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
Masingue M, Benoist JF, Roze E, Moussa F, Sedel F, Lubetzki C, Nadjar Y
J Neurol Sci 2019 Jan 15;396:112-118. Epub 2018 Nov 10 doi: 10.1016/j.jns.2018.11.014. PMID: 30448717

Clinical prediction guides

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
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
De Bus L, Depuydt P, Steen J, Dhaese S, De Smet K, Tabah A, Akova M, Cotta MO, De Pascale G, Dimopoulos G, Fujitani S, Garnacho-Montero J, Leone M, Lipman J, Ostermann M, Paiva JA, Schouten J, Sjövall F, Timsit JF, Roberts JA, Zahar JR, Zand F, Zirpe K, De Waele JJ; DIANA study group
Intensive Care Med 2020 Jul;46(7):1404-1417. Epub 2020 Jun 9 doi: 10.1007/s00134-020-06111-5. PMID: 32519003Free PMC Article
Corsi S, Iodice S, Vigna L, Cayir A, Mathers JC, Bollati V, Byun HM
Clin Epigenetics 2020 Feb 17;12(1):29. doi: 10.1186/s13148-020-00825-5. PMID: 32066501Free PMC Article
Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Bürgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R
J Inherit Metab Dis 2015 Sep;38(5):905-14. Epub 2015 Apr 14 doi: 10.1007/s10545-015-9836-6. PMID: 25868664Free PMC Article

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