Coenzyme Q Deficiency Syndromes - Ubiquinone Deficiency

Coenzyme Q (ubiquinone) deficiency has been associated with a variety of diseases that include infantile as well as adult forms (uncommon). Serum creatine kinase and lactic acid levels are useful in the disease workup. Molecular testing may be helpful, but because multiple genes may be involved, next generation sequencing (NGS) may be the best methodology.

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Last Update: December 2018