Coenzyme Q10 deficiency and isolated myopathy

Neurology. 2006 Jan 24;66(2):253-5. doi: 10.1212/01.wnl.0000194241.35115.7c.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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

Substances

  • Coenzymes
  • Ubiquinone
  • Lactic Acid
  • Creatine Kinase
  • Electron Transport Complex I
  • Electron Transport Complex III
  • coenzyme Q10