Primary coenzyme Q deficiency [13 genes]

Coenzyme Q (CoQ) or ubiquinone is a lipophilic molecule whose main function is to act as an electron and proton transporter in the mitochondrial respiratory chain and whose deficiency causes alterations in oxidative phosphorylation. CoQ also performs a multitude of extramitochondrial functions, among which its antioxidant role stands out, being the only lipophilic antioxidant normally synthesized by mammalian cells. To date, ten genes involved in the regulation of CoQ biosynthesis have been identified, COQ genes, which retain high homology between species. Mutations in the COQ genes in humans cause a primary CoQ10 deficiency, the clinical spectrum of which encompasses diverse phenotypes, with progressive encephalomyopathy predominating. Patients with ubiquinone deficiency usually respond very positively to treatment with CoQ10, making it one of the few mitochondrial diseases with effective treatment.