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Mitochondrial encephalomyopathy with coenzyme Q10 deficiency
C Sobreira1, M Hirano, S Shanske
1H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032, USA.
Neurology
|May 1, 1997
Summary
Coenzyme Q10 (CoQ10) deficiency can cause severe neurological and muscle problems. Early recognition of symptoms like seizures and muscle weakness is crucial for timely CoQ10 supplementation.
Area of Science:
- Biochemistry
- Mitochondrial Medicine
- Genetics
Background:
- Coenzyme Q10 (CoQ10) is vital for mitochondrial electron transport.
- Human CoQ10 deficiency is rare, with limited documented cases.
Observation:
- A patient presented with delayed motor milestones, proximal weakness, and exercise-induced pigmenturia.
- Seizures, elevated creatine kinase, and lactic acidosis were noted.
- Muscle biopsy showed ragged-red fibers and cytochrome c oxidase deficiency.
Findings:
- Impaired mitochondrial oxygen consumption was observed, correctable with decylubiquinone.
- Near-infrared spectroscopy confirmed an oxidative phosphorylation defect.
- Muscle CoQ10 levels were <25% of normal, with reduced complex I+II and I+III activity.
Implications:
- The triad of CNS involvement, myoglobinuria, and ragged-red fibers suggests CoQ10 deficiency.
- Prompt CoQ10 supplementation may improve patient outcomes.
- Highlights the importance of biochemical testing for mitochondrial disorders.