U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Combined oxidative phosphorylation deficiency

MedGen UID:
1626645
•Concept ID:
C4540031
•
Finding
Synonym: combined oxidative phosphorylation deficiency
 
Related genes: MICOS13, EARS2, MTFMT, SFXN4, SLC25A26, MARS2, MTRFR, PNPT1, GFM1, GTPBP3, TARS2, NARS2, CARS2, MRPS34, MRPL44, ELAC2, TRMT5, AARS2, VARS2, LYRM4, MRPS22, RMND1, TRMT10C, TRIT1, MRPS2, MRPS7, MRPS16, TXN2, MTO1, MRPL3, FARS2, TSFM, AIFM1, TUFM, MIPEP, C1QBP, ATP5F1A
 
Monarch Initiative: MONDO:0000732
OMIM® Phenotypic series: PS609060

Definition

A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes are affected. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Biological basis and treatment of frailty and sarcopenia.
Sato R, Vatic M, Peixoto da Fonseca GW, Anker SD, von Haehling S
Cardiovasc Res 2024 Jul 31;120(9):982-998. doi: 10.1093/cvr/cvae073. PMID: 38828887
Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Diagnosis and Treatment of Mitochondrial Myopathies.
Ahmed ST, Craven L, Russell OM, Turnbull DM, Vincent AE
Neurotherapeutics 2018 Oct;15(4):943-953. doi: 10.1007/s13311-018-00674-4. PMID: 30406383Free PMC Article

Recent clinical studies

Etiology

The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review.
Aleksic D, Jankovic MG, Todorovic S, Kovacevic M, Borkovic M
Turk J Pediatr 2023;65(6):1018-1024. doi: 10.24953/turkjped.2022.1082. PMID: 38204316
Novel insights on GTPBP3-associated hypertrophic cardiomyopathy.
Angelova P, Velchev V, Stoyanov N, Atemin S, Todorov T, Tourtourikov I, Mitev V, Todorova A
Am J Med Genet A 2023 Jul;191(7):1804-1813. Epub 2023 Apr 7 doi: 10.1002/ajmg.a.63205. PMID: 37029485
Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.
Ni M, Black LF, Pan C, Vu H, Pei J, Ko B, Cai L, Solmonson A, Yang C, Nugent KM, Grishin NV, Xing C, Roeder E, DeBerardinis RJ
J Inherit Metab Dis 2021 Jul;44(4):949-960. Epub 2021 Apr 27 doi: 10.1002/jimd.12387. PMID: 33855712Free PMC Article
Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C
Pediatrics 2017 Oct;140(4) doi: 10.1542/peds.2016-2854. PMID: 28939701
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
Heidary G, Calderwood L, Cox GF, Robson CD, Teot LA, Mullon J, Anselm I
J Neuroophthalmol 2014 Mar;34(1):39-43. doi: 10.1097/WNO.0000000000000076. PMID: 24284555

Diagnosis

IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.
Dong Q, Yin X, Fan S, Zhong S, Yang W, Chen K, Wang Q, Ma X, Mahlatsi RL, Yang Y, Lyu J, Fang H, Wang Y
Orphanet J Rare Dis 2024 Aug 21;19(1):305. doi: 10.1186/s13023-024-03310-x. PMID: 39169373Free PMC Article
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N, Chen L, Zhang Y, Wu X, Hao Y, Yang F, Yang Z, Liang J
BMC Pediatr 2024 Feb 3;24(1):96. doi: 10.1186/s12887-024-04553-0. PMID: 38310242Free PMC Article
Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.
Li L, Ma J, Wang J, Dong L, Liu S
Eur J Med Res 2022 Sep 26;27(1):184. doi: 10.1186/s40001-022-00808-7. PMID: 36155627Free PMC Article
COXPD9 in an individual from Puerto Rico and literature review.
Alsharhan H, Muraresku C, Ganetzky RD
Am J Med Genet A 2021 Aug;185(8):2519-2525. Epub 2021 May 19 doi: 10.1002/ajmg.a.62344. PMID: 34008913
Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.
Alfadhel M, Nashabat M, Abu Ali Q, Hundallah K
Neurosciences (Riyadh) 2017 Jan;22(1):4-13. doi: 10.17712/nsj.2017.1.20160542. PMID: 28064324Free PMC Article

Therapy

Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C
Pediatrics 2017 Oct;140(4) doi: 10.1542/peds.2016-2854. PMID: 28939701
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
Raviglione F, Conte G, Ghezzi D, Parazzini C, Righini A, Vergaro R, Legati A, Spaccini L, Gasperini S, Garavaglia B, Mastrangelo M
Am J Med Genet A 2016 Nov;170(11):3004-3007. Epub 2016 Aug 23 doi: 10.1002/ajmg.a.37836. PMID: 27549011

Prognosis

IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.
Dong Q, Yin X, Fan S, Zhong S, Yang W, Chen K, Wang Q, Ma X, Mahlatsi RL, Yang Y, Lyu J, Fang H, Wang Y
Orphanet J Rare Dis 2024 Aug 21;19(1):305. doi: 10.1186/s13023-024-03310-x. PMID: 39169373Free PMC Article
A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.
Gokalp S, Inci A, Kilic A, Ozsaydi E, Altun AN, Demir F, Ergin FB, Ozbek MN, Okur I, Ezgu F, Tumer L
J Pediatr Endocrinol Metab 2024 Jun 25;37(6):571-574. Epub 2024 Apr 18 doi: 10.1515/jpem-2023-0569. PMID: 38630895
Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review.
Zhang X, Xiang F, Li D, Yang F, Yu S, Wang X
BMC Neurol 2024 Jan 2;24(1):15. doi: 10.1186/s12883-023-03480-4. PMID: 38166857Free PMC Article
Identification and characterization of novel compound variants in SLC25A26 associated with combined oxidative phosphorylation deficiency 28.
Ji Y, Wang S, Cheng Y, Fang L, Zhao J, Gao L, Xu C
Gene 2021 Dec 15;804:145891. Epub 2021 Aug 8 doi: 10.1016/j.gene.2021.145891. PMID: 34375635
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
Vernon HJ, McClellan R, Batista DA, Naidu S
Am J Med Genet A 2015 May;167A(5):1147-51. Epub 2015 Apr 6 doi: 10.1002/ajmg.a.36993. PMID: 25851414

Clinical prediction guides

IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.
Dong Q, Yin X, Fan S, Zhong S, Yang W, Chen K, Wang Q, Ma X, Mahlatsi RL, Yang Y, Lyu J, Fang H, Wang Y
Orphanet J Rare Dis 2024 Aug 21;19(1):305. doi: 10.1186/s13023-024-03310-x. PMID: 39169373Free PMC Article
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Smith TB, Rea A, Thomas HB, Thompson K, Oláhová M, Maroofian R, Zamani M, He L, Sadeghian S, Galehdari H, Lotan NS, Gilboa T, Herman KC, McCorvie TJ, Yue WW, Houlden H, Taylor RW, Newman WG, O'Keefe RT
Eur J Hum Genet 2023 Oct;31(10):1190-1194. Epub 2023 Aug 9 doi: 10.1038/s41431-023-01437-2. PMID: 37558808Free PMC Article
Novel insights on GTPBP3-associated hypertrophic cardiomyopathy.
Angelova P, Velchev V, Stoyanov N, Atemin S, Todorov T, Tourtourikov I, Mitev V, Todorova A
Am J Med Genet A 2023 Jul;191(7):1804-1813. Epub 2023 Apr 7 doi: 10.1002/ajmg.a.63205. PMID: 37029485
Identification and characterization of novel compound variants in SLC25A26 associated with combined oxidative phosphorylation deficiency 28.
Ji Y, Wang S, Cheng Y, Fang L, Zhao J, Gao L, Xu C
Gene 2021 Dec 15;804:145891. Epub 2021 Aug 8 doi: 10.1016/j.gene.2021.145891. PMID: 34375635
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
Vernon HJ, McClellan R, Batista DA, Naidu S
Am J Med Genet A 2015 May;167A(5):1147-51. Epub 2015 Apr 6 doi: 10.1002/ajmg.a.36993. PMID: 25851414

Recent systematic reviews

Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review.
Zhang Q, Ouyang Q, Xiang J, Li H, Lv H, An Y
Genes (Basel) 2023 Feb 22;14(3) doi: 10.3390/genes14030552. PMID: 36980825Free PMC Article
Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.
He P, Wang Q, Hong X, Yuan H
Am J Med Genet A 2023 Jan;191(1):70-76. Epub 2022 Oct 11 doi: 10.1002/ajmg.a.62988. PMID: 36218002

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...