Primary Coenzyme Q10 Deficiency

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Xu, R. Primary Coenzyme Q10 Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5437 (accessed on 25 September 2026).

Xu R. Primary Coenzyme Q10 Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5437. Accessed September 25, 2026.

Xu, Rita. "Primary Coenzyme Q10 Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5437 (accessed September 25, 2026).

Xu, R. (2020, December 24). Primary Coenzyme Q10 Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/5437

Xu, Rita. "Primary Coenzyme Q10 Deficiency." Encyclopedia. Web. 24 December, 2020.

Primary Coenzyme Q10 Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/primary-coenzyme-q10-deficiency

Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder involves a shortage (deficiency) of a substance called coenzyme Q10.

genetic conditions

References

Acosta MJ, Vazquez Fonseca L, Desbats MA, Cerqua C, Zordan R, Trevisson E,Salviati L. Coenzyme Q biosynthesis in health and disease. Biochim Biophys Acta. 2016 Aug;1857(8):1079-1085. doi: 10.1016/j.bbabio.2016.03.036.Review.
Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L. Genetic bases andclinical manifestations of coenzyme Q10 (CoQ 10) deficiency. J Inherit Metab Dis.2015 Jan;38(1):145-56. doi: 10.1007/s10545-014-9749-9.
Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L. Genetics ofcoenzyme q10 deficiency. Mol Syndromol. 2014 Jul;5(3-4):156-62. doi:10.1159/000362826.
Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E,Solomon M, DiMauro S, Quinzii C, Hirano M. Heterogeneity of coenzyme Q10deficiency: patient study and literature review. Arch Neurol. 2012Aug;69(8):978-83. doi: 10.1001/archneurol.2012.206. Review. Erratum in: ArchNeurol. 2012 Jul;69(7):886. López, Luis [corrected to López, Luis C].
Laredj LN, Licitra F, Puccio HM. The molecular genetics of coenzyme Qbiosynthesis in health and disease. Biochimie. 2014 May;100:78-87. doi:10.1016/j.biochi.2013.12.006.
Ozaltin F. Primary coenzyme Q10 (CoQ 10) deficiencies and relatednephropathies. Pediatr Nephrol. 2014 Jun;29(6):961-9. doi:10.1007/s00467-013-2482-z.
Quinzii CM, Emmanuele V, Hirano M. Clinical presentations of coenzyme q10deficiency syndrome. Mol Syndromol. 2014 Jul;5(3-4):141-6. doi:10.1159/000360490.
Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil ResRev. 2010;16(2):183-8. doi: 10.1002/ddrr.108. Review.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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