Primary Coenzyme Q10 Deficiency Overview (2025)

  • AcostaMJ, Vazquez FonsecaL, DesbatsMA, CerquaC, ZordanR, TrevissonE, SalviatiL. Coenzyme Q biosynthesis in health and disease.Biochim Biophys Acta.2016;1857:1079-85. [PubMed: 27060254]

  • AshrafS, GeeHY, WoernerS, XieLX, Vega-WarnerV, LovricS, FangH, SongX, CattranDC, Avila-CasadoC, PatersonAD, NitschkéP, Bole-FeysotC, CochatP, Esteve-RuddJ, HaberbergerB, AllenSJ, ZhouW, AirikR, OttoEA, BaruaM, Al-HamedMH, KariJA, EvansJ, BierzynskaA, SaleemMA, BöckenhauerD, KletaR, El DesokyS, HacihamdiogluDO, GokF, WashburnJ, WigginsRC, ChoiM, LiftonRP, LevyS, HanZ, SalviatiL, ProkischH, WilliamsDS, PollakM, ClarkeCF, PeiY, AntignacC, HildebrandtF. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.J Clin Invest.2013;123:5179-89. [PMC free article: PMC3859425] [PubMed: 24270420]

  • AuréK, BenoistJF, Ogier de BaulnyH, RomeroNB, RigalO, LombesA. Progression despite replacement of a myopathic form of coenzyme Q10 defect.Neurology.2004;63:727-9. [PubMed: 15326254]

  • BoschAM, KamsteegEJ, RodenburgRJ, van DeutekomAW, BuisDR, EngelenM, CobbenJM. Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes.Mol Genet Metab Rep.2018;17:19-21. [PMC free article: PMC6138878] [PubMed: 30225196]

  • Brea-CalvoG, HaackTB, KarallD, OhtakeA, InvernizziF, CarrozzoR, KremerL, DusiS, FauthC, Scholl-BürgiS, GrafE, AhtingU, RestaN, LaforgiaN,VerrigniD, OkazakiY, KohdaM, MartinelliD, FreisingerP, StromTM, MeitingerT, LampertiC, LacsonA, NavasP, MayrJA, BertiniE, MurayamaK, ZevianiM, ProkischH, GhezziD. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.Am J Hum Genet.2015; 96:309-17. [PMC free article: PMC4320255] [PubMed: 25658047]

  • CaglayanAO, GumusH, SandfordE, KubisiakTL, MaQ, OzelAB, PerH, LiJZ, ShakkottaiVG, BurmeisterM. COQ4 mutation leads to childhood-onset ataxia improved by CoQ10 administration.Cerebellum.2019;18:665-9. [PMC free article: PMC6536000] [PubMed: 30847826]

  • ChungWK, MartinK, JalasC, BraddockSR, JuusolaJ, MonaghanKG, WarnerB, FranksS, YudkoffM, LulisL, RhodesRH, PrasadV, TortiE, ChoMT, ShinawiM. Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.J Med Genet.2015;52:627-35. [PubMed: 26185144]

  • CordtsI, SemmlerL, PrasuhnJ, SeibtA, HerebianD, NavaratnarajahT, ParkJ, DeiningerN, LaugwitzL, GörickeSL, LingorP, BrüggemannN, MünchauA, SynofzikM, TimmannD, MayrJA, HaackTB, DistelmaierF, DeschauerM. Bi-allelic COQ4 variants cause adult-onset ataxia-spasticity spectrum disease.Mov Disord.2022;37:2147-53. [PubMed: 36047608]

  • DesbatsMA, LunardiG, DoimoM, TrevissonE, SalviatiL. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.J Inherit Metab Dis.2015a;38:145-56. [PubMed: 25091424]

  • DesbatsMA, MorbidoniV, Silic-BenussiM, DoimoM, CiminaleV, CassinaM, SacconiS, HiranoM, BassoG, PierrelF, NavasP, SalviatiL, TrevissonE. The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.Hum Mol Genet.2016;25:4256-65. [PubMed: 27493029]

  • DesbatsMA, VetroA, LimongelliI, LunardiG, CasarinA, DoimoM, SpinazziM, AngeliniC, CenacchiG, BurlinaA, Rodriguez HernandezMA, ChiandettiL, ClementiM, TrevissonE, NavasP, ZuffardiO, SalviatiL. Primary coenzyme Q(10) deficiency presenting as fatal neonatal multiorgan failure.Eur J Hum Genet.2015b;23:1254-8. [PMC free article: PMC4430297] [PubMed: 25564041]

  • DiMauroS, SchonEA, CarelliV, HiranoM. The clinical maze of mitochondrial neurology.Nat Rev Neurol.2013;9:429-44. [PMC free article: PMC3959773] [PubMed: 23835535]

  • DinwiddieDL, SmithLD, MillerNA, AthertonAM, FarrowEG, StrenkME, SodenSE, SaundersCJ, KingsmoreSF. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.Genomics.2013;102:148-56. [PMC free article: PMC4557607] [PubMed: 23631824]

  • Diomedi-CamasseiF, Di GiandomenicoS, SantorelliFM, CaridiG, PiemonteF, MontiniG, GhiggeriGM, MurerL, BarisoniL, PastoreA, MudaAO, ValenteML, BertiniE, EmmaF. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.J Am Soc Nephrol.2007;18:2773-80. [PubMed: 17855635]

  • DrovandiS, Lipska-ZiętkiewiczBS, OzaltinF, EmmaF, GulhanB, BoyerO, TrautmannA, XuH, ShenQ, RaoJ, RiedhammerKM, HeemannU, HoefeleJ, StentonSL, TsyginAN, NgKH, FominaS, BenettiE, AurelleM, PrikhodinaL, SchreuderMF, TabatabaeifarM, JankowskiM, BaikoS, MaoJ, FengC, LiuC, SunS, DengF, WangX, ClavéS, StańczykM, Bałasz-ChmielewskaI, FilaM, DurkanAM, LevartTK, DursunI, EsfandiarN, HaasD, BjerreA, AnaratA, BenzMR, TalebiS, HoomanN, AricetaG, SchaeferF, et al.Oral coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary coenzyme Q10 deficiency.Kidney Int.2022a;102:604-12. [PubMed: 35643375]

  • DrovandiS, Lipska-ZiętkiewiczBS, OzaltinF, EmmaF, GulhanB, BoyerO, TrautmannA, ZiętkiewiczS, XuH, ShenQ, RaoJ, RiedhammerKM, HeemannU, HoefeleJ, StentonSL, TsyginAN, NgKH, FominaS, BenettiE, AurelleM, PrikhodinaL, SchijvensAM, TabatabaeifarM, JankowskiM, BaikoS, MaoJ, FengC, DengF, Rousset-RouviereC, StańczykM, Bałasz-ChmielewskaI, FilaM, DurkanAM, LevartTK, DursunI, EsfandiarN, HaasD, BjerreA, AnaratA, BenzMR, TalebiS, HoomanN, AricetaG, SchaeferF, et al.Variation of the clinical spectrum and genotype-phenotype associations in coenzyme Q10 deficiency associated glomerulopathy.Kidney Int.2022b;102:592-603. [PubMed: 35483523]

  • DuncanAJ, Bitner-GlindziczM, MeunierB, CostelloH, HargreavesIP, LópezLC, HiranoM, QuinziiCM, SadowskiMI, HardyJ, SingletonA, ClaytonPT, RahmanS. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.Am J Hum Genet.2009;84:558-66. [PMC free article: PMC2681001] [PubMed: 19375058]

  • EmmanueleV, LópezLC, BerardoA, NainiA, TadesseS, WenB, D'AgostinoE, SolomonM, DiMauroS, QuinziiC, HiranoM. Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.Arch Neurol.2012; 69:978-83. [PMC free article: PMC3639472] [PubMed: 22490322]

  • GiganteM, DiellaS, SantangeloL, TrevissonE, AcostaMJ, AmatrudaM, FinziG, CaridiG, MurerL, AccetturoM, RanieriE, GhiggeriGM, GiordanoM, GrandalianoG, SalviatiL, GesualdoL. Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.Clin Genet.2017;92:224-6. [PubMed: 28044327]

  • HargreavesIP. Coenzyme Q10 as a therapy for mitochondrial disease.Int J Biochem Cell Biol.2014;49:105-11. [PubMed: 24495877]

  • HeeringaSF, CherninG, ChakiM, ZhouW, SloanAJ, JiZ, XieLX, SalviatiL, HurdTW, Vega-WarnerV, KillenPD, RaphaelY, AshrafS, OvuncB, SchoebDS, McLaughlinHM, AirikR, VlangosCN, GbadegesinR, HinkesB, SaisawatP, TrevissonE, DoimoM, CasarinA, PertegatoV, GiorgiG, ProkischH, RötigA, NürnbergG, BeckerC, WangS, OzaltinF, TopalogluR, BakkalogluA, BakkalogluSA, MüllerD, BeissertA, MirS, BerdeliA, VarpizenS, ZenkerM, MatejasV, Santos-OcañaC, NavasP, KusakabeT, KispertA, AkmanS, SolimanNA, KrickS, MundelP, ReiserJ, NürnbergP, ClarkeCF, WigginsRC, FaulC, HildebrandtF. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.J Clin Invest.2011;121:2013-24. [PMC free article: PMC3083770] [PubMed: 21540551]

  • HuangSJ, AmendolaLM, SternenDL. Variation among DNA banking consent forms: points for clinicians to bank on.J Community Genet.2022;13:389-97. [PMC free article: PMC9314484] [PubMed: 35834113]

  • JacquierA, TheurietJ, FontaineF, MosbachV, LacosteN, RibaultS, RissonV, CarrasJ, CoudertL, SimonetT, LatourP, StojkovicT, PiardJ, CossonA, LescaG, BouhourF, AlloucheS, PuccioH, PégatA, SchaefferL.Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.Brain.2023;146:3470-83. [PMC free article: PMC10393394] [PubMed: 36454683]

  • JakobsBS, van den HeuvelLP, SmeetsRJ, de VriesMC, HienS, SchaibleT, SmeitinkJA, WeversRA, WortmannSB, RodenburgRJ. A novel mutation in COQ2 leading to fatal infantile multisystem disease.J Neurol Sci.2013;326:24-8. [PubMed: 23343605]

  • JónssonH, SulemP, KehrB, KristmundsdottirS, ZinkF, HjartarsonE, HardarsonMT, HjorleifssonKE, EggertssonHP, GudjonssonSA, WardLD, ArnadottirGA, HelgasonEA, HelgasonH, GylfasonA, JonasdottirA, JonasdottirA, RafnarT, FriggeM, StaceySN, Th MagnussonO, ThorsteinsdottirU, MassonG, KongA, HalldorssonBV, HelgasonA, GudbjartssonDF, StefanssonK. Parental influence on human germline de novo mutations in 1,548 trios from Iceland.Nature.2017;549:519-22. [PubMed: 28959963]

  • JurkuteN, CancellieriF, PohlL, LiCHZ, HeatonRA, ReurinkJ, BellinghamJ, QuinodozM, YiotiG, StefaniotouM, WeenerM, ZulegerT, HaackTB, StinglK; Genomics England Research Consortium; Hoyng CB, Mahroo OA, Hargreaves I, Raymond FL, Michaelides M, Rivolta C, Kohl S, Roosing S, Webster AR, Arno G. Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.NPJ Genom Med.2022;7:60. [PMC free article: PMC9581764] [PubMed: 36266294]

  • KorkmazE, Lipska-ZiętkiewiczBS, BoyerO, GribouvalO, FourrageC, TabatabaeiM, SchnaidtS, GucerS, KaymazF, AriciM, DinckanA, MirS, BayazitAK, EmreS, BalatA, ReesL, ShroffR, BergmannC, MouraniC, AntignacC, OzaltinF, SchaeferF, et al.ADCK4-associated glomerulopathy causes adolescence-onset FSGS.J Am Soc Nephrol.2016;27:63-8. [PMC free article: PMC4696579] [PubMed: 25967120]

  • Lagier-TourenneC, TazirM, LópezLC, QuinziiCM, AssoumM, DrouotN, BussoC, MakriS, Ali-PachaL, BenhassineT, AnheimM, LynchDR, ThibaultC, PlewniakF, BianchettiL, TranchantC, PochO, DiMauroS, MandelJL, BarrosMH, HiranoM, KoenigM. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.Am J Hum Genet.2008;82:661-72. [PMC free article: PMC2427193] [PubMed: 18319074]

  • LiuXX, WangN, ChenYK, LvWQ, HongJM, XuGR, ZhouLY, ChenWJ, FanDS, HeJ. Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.Brain.2023;146:e27-e30. [PubMed: 36758993]

  • LópezLC, QuinziiCM, AreaE, NainiA, RahmanS, SchuelkeM, SalviatiL, DimauroS, HiranoM. Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects.PLoS One.2010;5:e11897. [PMC free article: PMC2912846] [PubMed: 20689595]

  • LópezLC, SchuelkeM, QuinziiCM, KankiT, RodenburgRJ, NainiA, DimauroS, HiranoM. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.Am J Hum Genet.2006;79:1125-9. [PMC free article: PMC1698707] [PubMed: 17186472]

  • McCarthyHJ, BierzynskaA, WherlockM, OgnjanovicM, KerecukL, HegdeS, FeatherS, GilbertRD, KrischockL, JonesC, SinhaMD, WebbNJ, ChristianM, WilliamsMM, MarksS, KoziellA, WelshGI, SaleemMA, et al.Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.Clin J Am Soc Nephrol.2013;8:637-48. [PMC free article: PMC3613958] [PubMed: 23349334]

  • MeroS, SalviatiL, LeuzziV, RubegniA, CalderanC, NardecchiaF, GalatoloD, DesbatsMA, NaefV, GemignaniF, NovelliM, TessaA, BattiniR, SantorelliFM, MarcheseM. New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts.J Neurol.2021;268:3381-9. [PubMed: 33704555]

  • MignotC, ApartisE, DurrA, Marques LourençoC, CharlesP, DevosD, MoreauC, de LonlayP, DrouotN, BurglenL, KempfN, NourissonE, Chantot-BastaraudS, LebreAS, RioM, ChaixY, BiethE, RozeE, BonnetI, CanapleS, RastelC, BriceA, RötigA, DesguerreI, TranchantC, KoenigM, AnheimM. Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.Orphanet J Rare Dis.2013;8:173. [PMC free article: PMC3843540] [PubMed: 24164873]

  • MitsuiJ, MatsukawaT, IshiuraH, FukudaY, IchikawaY, DateH, AhsanB, NakaharaY, MomoseY, TakahashiY, IwataA, GotoJ, YamamotoY, KomataM, ShirahigeK, HaraK, KakitaA, YamadaM, TakahashiH, OnoderaO, NishizawaM, TakashimaH, KuwanoR, WatanabeH, ItoM, SobueG, SomaH, YabeI, SasakiH, AokiM, IshikawaK, MizusawaH, KanaiK, HattoriT, KuwabaraS, AraiK, KoyanoS, KuroiwaY, HasegawaK, YuasaT, YasuiK, NakashimaK, ItoH, IzumiY, KajiR, KatoT, KusunokiS, OsakiY, HoriuchiM, KondoT, MurayamaS, HattoriN, YamamotoM, MurataM, SatakeW, TodaT, DürrA, BriceA, FillaA, KlockgetherT, WüllnerU, NicholsonG, GilmanS, ShultsCW, TannerCM, KukullWA, LeeVM, MasliahE, LowPA, SandroniP, TrojanowskiJQ, OzeliusL, ForoudT, TsujiS. Mutations in COQ2 in familial and sporadic multiple-system atrophy.N Engl J Med.2013;369:233-44. [PubMed: 23758206]

  • MolletJ, DelahoddeA, SerreV, ChretienD, SchlemmerD, LombesA, BoddaertN, DesguerreI, de LonlayP, de BaulnyHO, MunnichA, RötigA. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.Am J Hum Genet.2008;82:623-30. [PMC free article: PMC2427298] [PubMed: 18319072]

  • MolletJ, GiurgeaI, SchlemmerD, DallnerG, ChretienD, DelahoddeA, BacqD, de LonlayP, MunnichA, RötigA.Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.J Clin Invest.2007;117:765-72. [PMC free article: PMC1804361] [PubMed: 17332895]

  • MonteroR, Sánchez-AlcázarJA, BrionesP, HernándezAR, CorderoMD, TrevissonE, SalviatiL, PinedaM, García-CazorlaA, NavasP, ArtuchR. Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes.Clin Biochem.2008;41:697-700. [PubMed: 18387363]

  • MontiniG, MalaventuraC, SalviatiL.Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency.N Engl J Med.2008;358:2849-50. [PubMed: 18579827]

  • NardecchiaF, De GiorgiA, PalomboF, FioriniC, De NegriAM, CarelliV, CaporaliL, LeuzziV. Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.Ann Clin Transl Neurol.2021;8:247-51. [PMC free article: PMC7818083] [PubMed: 33285023]

  • PesiniA, Hidalgo-GutierrezA, QuinziiCM. Mechanisms and therapeutic effects of benzoquinone ring analogs in primary CoQ deficiencies.Antioxidants (Basel). 2022;11:665. [PMC free article: PMC9029335] [PubMed: 35453349]

  • RahmanS, ClarkeCF, HiranoM. The 176th ENMC International Workshop: diagnosis and treatment of coenzyme Q10 deficiency.Neuromuscul Disord.2012;22:76-86. [PMC free article: PMC3222743] [PubMed: 21723727]

  • RötigA, AppelkvistEL, GeromelV, ChretienD, KadhomN, EderyP, LebideauM, DallnerG, MunnichA, ErnsterL, RustinP. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.Lancet.2000;356:391-5. [PubMed: 10972372]

  • SalviatiL, SacconiS, MurerL, ZacchelloG, FranceschiniL, LaverdaAM, BassoG, QuinziiC, AngeliniC, HiranoM, NainiAB, NavasP, DiMauroS, MontiniG. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.Neurology.2005;65:606-8. [PubMed: 16116126]

  • SalviatiL, TrevissonE, Rodriguez HernandezMA, CasarinA, PertegatoV, DoimoM, CassinaM, AgostoC, DesbatsMA, SartoriG, SacconiS, MemoL, ZuffardiO, ArtuchR, QuinziiC, DimauroS, HiranoM, Santos-OcañaC, NavasP. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.J Med Genet.2012;49:187-91. [PMC free article: PMC3983946] [PubMed: 22368301]

  • ScalaisE, ChafaiR, Van CosterR, BindlL, NuttinC, PanagiotarakiC, SenecaS, LissensW, RibesA, GeersC, SmetJ, De MeirleirL. Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).Eur J Paediatr Neurol.2013;17:625-30. [PubMed: 23816342]

  • StallworthJY, BlairDR, SlavotinekA, MooreAT, DuncanJL, de Alba CampomanesAG. Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency.Ophthalmic Genet.2023;44:486-90. [PMC free article: PMC10205914] [PubMed: 36420660]

  • TerraccianoA, RenaldoF, ZanniG, D'AmicoA, PastoreA, BarresiS, ValenteEM, PiemonteF, TozziG, CarrozzoR, ValerianiM, BoldriniR, MercuriE, SantorelliFM, BertiniE. The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.Eur J Paediatr Neurol.2012;16:248-56. [PMC free article: PMC3341568] [PubMed: 21873089]

  • TrevissonE, DiMauroS, NavasP, SalviatiL.Coenzyme Q deficiency in muscle.Curr Opin Neurol.2011;24:449-56. [PubMed: 21844807]

  • WangY, HekimiS.Micellization of coenzyme Q by the fungicide caspofungin allows for safe intravenous administration to reach extreme supraphysiological concentrations.Redox Biol.2020;36:101680. [PMC free article: PMC7451649] [PubMed: 32810741]

  • YuMH, TsangMH, LaiS, HoMS, TseDML, WillisB, KwongAK, ChouYY, LinSP, QuinziiCM, HwuWL, ChienYH, KuoPL, ChanVC, TsoiC, ChongSC, RodenburgRJT, SmeitinkJ, MakCC, YeungKS, FungJL, LamW, HuiJ, LeeNC, FungCW, ChungBH. Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.NPJ Genom Med.2019;4:18. [PMC free article: PMC6683205] [PubMed: 31396399]

  • YuberoD, MonteroR, ArmstrongJ, EspinósC, PalauF, Santos-OcañaC, SalviatiL, NavasP, ArtuchR.Molecular diagnosis of coenzyme Q(10) deficiency.Expert Rev Mol Diagn.2015;15:1049-59. [PubMed: 26144946]

  • Primary Coenzyme Q10 Deficiency Overview (2025)

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