Coenzyme Q10 deficiency and isolated myopathy

• Published in: Neurology Vol. 66; no. 2; p. 253
• Main Authors: Horvath, R, Schneiderat, P, Schoser, B G H, Gempel, K, Neuen-Jacob, E, Plöger, H, Müller-Höcker, J, Pongratz, D E, Naini, A, DiMauro, S, Lochmüller, H
• Format: Journal Article
• Language: English
• Published: United States 24.01.2006
• Subjects: Adult; Coenzymes; Creatine Kinase - blood; Delivery, Obstetric; Disease Progression; Electron Transport Complex I - deficiency; Electron Transport Complex III - deficiency; Female; Humans; Lactic Acid - blood; Lipid Metabolism; Male; Metabolism, Inborn Errors - complications; Muscle Weakness - etiology; Muscle, Skeletal - enzymology; Muscle, Skeletal - metabolism; Muscular Diseases - drug therapy; Muscular Diseases - etiology; Muscular Diseases - pathology; Muscular Diseases - physiopathology; Pregnancy; Pregnancy Complications - etiology; Pregnancy Complications - physiopathology; Ubiquinone - analogs & derivatives; Ubiquinone - deficiency; Ubiquinone - therapeutic use
• ISSN: 1526-632X
• DOI: 10.1212/01.wnl.0000194241.35115.7c

Three unrelated, sporadic patients with muscle coenzyme Q10 (CoQ10) deficiency presented at 32, 29, and 6 years of age with proximal muscle weakness and elevated serum creatine kinase (CK) and lactate levels, but without myoglobinuria, ataxia, or seizures. Muscle biopsy showed lipid storage myopathy, combined deficiency of respiratory chain complexes I and III, and CoQ10 levels below 50% of normal. Oral high-dose CoQ10 supplementation improved muscle strength dramatically and normalized serum CK.