Hereditary Coenzyme Q Deficiency Syndromes - Ubiquinone Deficiency

Primary coenzyme Q10 (CoQ10) deficiency conditions have diverse clinical manifestations that are caused by biallelic variants in genes that regulate or encode proteins involved in the coenzyme Q (CoQ) biosynthesis pathway (CoQ10 synthesis genes).  Secondary CoQ10 deficiencies are caused by pathogenic variation in genes not directly related to the CoQ10 biosynthetic pathway or by nongenetic factors such as statin use or fibromyalgia.    CoQ10 deficiency has a similar clinical presentation to many mitochondrial diseases. Unlike other mitochondrial diseases, CoQ10 deficiency is treatable, making definitive diagnosis extremely important for proper medical management. Initial laboratory testing often includes creatine kinase (CK) and lactic acid tests. These measurements are useful, but they cannot provide a definitive diagnosis. As such, genetic testing or biochemical detection of CoQ10 deficiency via muscle biopsy is necessary.

Tabs Content
Content Review: 
December 2019

Last Update: December 2019