COENZYME Q10 DEFICIENCY

Coenzyme Q10 (ubiquinone) is a vitamin-like cofactor that mediates energy transport in the mitochondrial respiratory chain. It serves as an important antioxidant in mitochondrial membranes. A primary deficiency in coenzyme Q10 in muscle is characterized by the triad of (1) recurrent myoglobinuria, (2) central nervous system symptoms including seizures, ataxia, or mental retardation, and (3) the observation of increased numbers of mitochondria and lipid storage in muscle biopsy. Secondary deficiencies have been observed in patients undergoing certain drug therapies (e.g., cholesterol-lowering drugs).

*As of July 15, 2005 the laboratory is now offering Coenzyme Q10 analysis in skeletal muscle as a clinical diagnostic test. Pricing for this test may be found under “Diagnostic Testing” on the “Comprehensive Test List” and specimen requirements may be found under “Diagnostic Testing” under “Specimen Requirements for Biochemical and Molecular Testing”.