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Coenzyme Q10 deficiency and isolated myopathy.

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.

About the Authors

Horvath R, Schneiderat P, Schoser BG, Gempel K, Neuen-Jacob E, Plöger H, Müller-Höcker J, Pongratz DE, Naini A, DiMauro S, Lochmüller H. (2006) Coenzyme Q10 deficiency and isolated myopathy. Neurology. 2006 Jan 24;66(2):253-5. Metabolic Disease Center Munich-Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Munich, Germany.

Comments

Dr_Abram_Hoffer

  • Posted on 06/06/2010 11:16 am
This new work with NAD Therapy is very exciting and I think is right on target. It is indeed an energy-metabolic-deficiency (EMD) because in the absence of this coenzyme cycle almost all the reactions in the body run down... I congratulate Theo Verwey and his colleagues for this remarkable advance in using this concept and in using a simple test, the ratio of pyruvate to lactate as a diagnostic measure, to indicate the dose, duration of treatment etc.

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