U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Coenzyme Q10 deficiency

MedGen UID:
334528
•Concept ID:
C1843920
•
Disease or Syndrome
Synonyms: Coenzyme Q10 deficiency, primary; CoQ10 deficiency; CoQ10 deficiency, primary
SNOMED CT: Coenzyme Q10 deficiency (724575009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018151
OMIM® Phenotypic series: PS607426
Orphanet: ORPHA35656

Definition

A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. [from NCI]

Professional guidelines

PubMed

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium, Schaefer F
Kidney Int 2022 Sep;102(3):592-603. Epub 2022 Apr 26 doi: 10.1016/j.kint.2022.02.040. PMID: 35483523
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA, Morbidoni V, Silic-Benussi M, Doimo M, Ciminale V, Cassina M, Sacconi S, Hirano M, Basso G, Pierrel F, Navas P, Salviati L, Trevisson E
Hum Mol Genet 2016 Oct 1;25(19):4256-4265. Epub 2016 Aug 4 doi: 10.1093/hmg/ddw257. PMID: 27493029
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency.
Rahman S, Clarke CF, Hirano M
Neuromuscul Disord 2012 Jan;22(1):76-86. Epub 2011 Jul 1 doi: 10.1016/j.nmd.2011.05.001. PMID: 21723727Free PMC Article

Recent clinical studies

Etiology

Coenzyme Q10 for heart failure.
Al Saadi T, Assaf Y, Farwati M, Turkmani K, Al-Mouakeh A, Shebli B, Khoja M, Essali A, Madmani ME
Cochrane Database Syst Rev 2021 Feb 3;(2)(2):CD008684. doi: 10.1002/14651858.CD008684.pub3. PMID: 35608922Free PMC Article
Clinical syndromes associated with Coenzyme Q(10) deficiency.
Alcázar-Fabra M, Trevisson E, Brea-Calvo G
Essays Biochem 2018 Jul 20;62(3):377-398. doi: 10.1042/EBC20170107. PMID: 30030365
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L
J Inherit Metab Dis 2015 Jan;38(1):145-56. Epub 2014 Aug 5 doi: 10.1007/s10545-014-9749-9. PMID: 25091424
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.
Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q₁₀ Deficiency Study Group
Mitochondrion 2013 Jul;13(4):337-41. Epub 2013 Apr 11 doi: 10.1016/j.mito.2013.04.001. PMID: 23583954
Hereditary ataxias: overview.
Jayadev S, Bird TD
Genet Med 2013 Sep;15(9):673-83. Epub 2013 Mar 28 doi: 10.1038/gim.2013.28. PMID: 23538602

Diagnosis

Manganese-driven CoQ deficiency.
Diessl J, Berndtsson J, Broeskamp F, Habernig L, Kohler V, Vazquez-Calvo C, Nandy A, Peselj C, Drobysheva S, Pelosi L, Vögtle FN, Pierrel F, Ott M, Büttner S
Nat Commun 2022 Oct 13;13(1):6061. doi: 10.1038/s41467-022-33641-x. PMID: 36229432Free PMC Article
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium, Schaefer F
Kidney Int 2022 Sep;102(3):592-603. Epub 2022 Apr 26 doi: 10.1016/j.kint.2022.02.040. PMID: 35483523
Clinical syndromes associated with Coenzyme Q(10) deficiency.
Alcázar-Fabra M, Trevisson E, Brea-Calvo G
Essays Biochem 2018 Jul 20;62(3):377-398. doi: 10.1042/EBC20170107. PMID: 30030365
Laboratory investigations.
Boltshauser E, Weber KP
Handb Clin Neurol 2018;154:287-298. doi: 10.1016/B978-0-444-63956-1.00017-5. PMID: 29903445
Mitochondrial disorders and epilepsy.
Desguerre I, Hully M, Rio M, Nabbout R
Rev Neurol (Paris) 2014 May;170(5):375-80. Epub 2014 May 5 doi: 10.1016/j.neurol.2014.03.010. PMID: 24810279

Therapy

The efficacy of coenzyme Q(10) treatment in alleviating the symptoms of primary coenzyme Q(10) deficiency: A systematic review.
Wang Y, Hekimi S
J Cell Mol Med 2022 Sep;26(17):4635-4644. Epub 2022 Aug 19 doi: 10.1111/jcmm.17488. PMID: 35985679Free PMC Article
Coenzyme Q10 for heart failure.
Al Saadi T, Assaf Y, Farwati M, Turkmani K, Al-Mouakeh A, Shebli B, Khoja M, Essali A, Madmani ME
Cochrane Database Syst Rev 2021 Feb 3;(2)(2):CD008684. doi: 10.1002/14651858.CD008684.pub3. PMID: 35608922Free PMC Article
Coenzyme Q nanodisks counteract the effect of statins on C2C12 myotubes.
Moschetti A, Dagda RK, Ryan RO
Nanomedicine 2021 Oct;37:102439. Epub 2021 Jul 10 doi: 10.1016/j.nano.2021.102439. PMID: 34256063Free PMC Article
Coenzyme Q(10) supplementation - In ageing and disease.
Aaseth J, Alexander J, Alehagen U
Mech Ageing Dev 2021 Jul;197:111521. Epub 2021 Jun 12 doi: 10.1016/j.mad.2021.111521. PMID: 34129891
Bypassing human CoQ(10) deficiency.
Herebian D, López LC, Distelmaier F
Mol Genet Metab 2018 Mar;123(3):289-291. Epub 2017 Dec 9 doi: 10.1016/j.ymgme.2017.12.008. PMID: 29246431

Prognosis

Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.
Park E, Kang HG, Choi YH, Lee KB, Moon KC, Jeong HJ, Nagata M, Cheong HI
Pediatr Nephrol 2017 Sep;32(9):1547-1554. Epub 2017 Apr 12 doi: 10.1007/s00467-017-3657-9. PMID: 28405841
Selenium and coenzyme Q10 interrelationship in cardiovascular diseases--A clinician's point of view.
Alehagen U, Aaseth J
J Trace Elem Med Biol 2015;31:157-62. Epub 2014 Nov 27 doi: 10.1016/j.jtemb.2014.11.006. PMID: 25511910
Using association rule mining to determine promising secondary phenotyping hypotheses.
Oellrich A, Jacobsen J, Papatheodorou I; Sanger Mouse Genetics Project, Smedley D
Bioinformatics 2014 Jun 15;30(12):i52-59. doi: 10.1093/bioinformatics/btu260. PMID: 24932005Free PMC Article
Mitochondrial disorders and epilepsy.
Desguerre I, Hully M, Rio M, Nabbout R
Rev Neurol (Paris) 2014 May;170(5):375-80. Epub 2014 May 5 doi: 10.1016/j.neurol.2014.03.010. PMID: 24810279
Neonatal presentation of coenzyme Q10 deficiency.
Rahman S, Hargreaves I, Clayton P, Heales S
J Pediatr 2001 Sep;139(3):456-8. doi: 10.1067/mpd.2001.117575. PMID: 11562630

Clinical prediction guides

Coenzyme Q(10) in aging and disease.
Gasmi A, Bjørklund G, Mujawdiya PK, Semenova Y, Piscopo S, Peana M
Crit Rev Food Sci Nutr 2024;64(12):3907-3919. Epub 2022 Oct 27 doi: 10.1080/10408398.2022.2137724. PMID: 36300654
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium, Schaefer F
Kidney Int 2022 Sep;102(3):592-603. Epub 2022 Apr 26 doi: 10.1016/j.kint.2022.02.040. PMID: 35483523
Coenzyme Q10 deficiency in patients with hereditary hemochromatosis.
Martinefski MR, Yamasato MF, Di Carlo MB, Daruich JR, Tripodi VP
Clin Res Hepatol Gastroenterol 2021 Nov;45(6):101624. Epub 2021 Mar 4 doi: 10.1016/j.clinre.2021.101624. PMID: 33676282
Coenzyme Q10 analytical determination in biological matrices and pharmaceuticals.
Lucangioli S, Martinefski M, Tripodi V
Front Biosci (Schol Ed) 2016 Jun 1;8(2):321-30. doi: 10.2741/s466. PMID: 27100710
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L
J Inherit Metab Dis 2015 Jan;38(1):145-56. Epub 2014 Aug 5 doi: 10.1007/s10545-014-9749-9. PMID: 25091424

Recent systematic reviews

The efficacy of coenzyme Q(10) treatment in alleviating the symptoms of primary coenzyme Q(10) deficiency: A systematic review.
Wang Y, Hekimi S
J Cell Mol Med 2022 Sep;26(17):4635-4644. Epub 2022 Aug 19 doi: 10.1111/jcmm.17488. PMID: 35985679Free PMC Article
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium, Schaefer F
Kidney Int 2022 Sep;102(3):592-603. Epub 2022 Apr 26 doi: 10.1016/j.kint.2022.02.040. PMID: 35483523
Coenzyme Q10 for heart failure.
Al Saadi T, Assaf Y, Farwati M, Turkmani K, Al-Mouakeh A, Shebli B, Khoja M, Essali A, Madmani ME
Cochrane Database Syst Rev 2021 Feb 3;(2)(2):CD008684. doi: 10.1002/14651858.CD008684.pub3. PMID: 35608922Free PMC Article
Coenzyme Q10 for heart failure.
Madmani ME, Yusuf Solaiman A, Tamr Agha K, Madmani Y, Shahrour Y, Essali A, Kadro W
Cochrane Database Syst Rev 2014 Jun 2;(6):CD008684. doi: 10.1002/14651858.CD008684.pub2. PMID: 24049047
Blood pressure lowering efficacy of coenzyme Q10 for primary hypertension.
Ho MJ, Bellusci A, Wright JM
Cochrane Database Syst Rev 2009 Oct 7;(4):CD007435. doi: 10.1002/14651858.CD007435.pub2. PMID: 19821418

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

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...