Abstract
The authors report 7 years of follow-up evaluation of a patient with coenzyme Q10 (CoQ10) deficiency. Initial symptoms of exercise intolerance and hyperlactatemia improved markedly with substitutive treatment. However, CoQ(10) supplementation did not prevent the onset of a cerebellar syndrome. A switch to idebenone treatment resulted in clinical and metabolic worsening, which disappeared with subsequent CoQ10 treatment. CoQ10 defects may cause progressive neurologic disease despite supplementation.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Benzoquinones / adverse effects
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Benzoquinones / therapeutic use
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Carnitine / therapeutic use
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Cerebellar Ataxia / genetics*
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Cerebellum / pathology
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Child, Preschool
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Disease Progression
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Drug Therapy, Combination
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Exercise Tolerance / drug effects
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Exercise Tolerance / genetics*
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Female
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Follow-Up Studies
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Humans
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Lactates / blood*
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Magnetic Resonance Imaging
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Mitochondria, Muscle / chemistry
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Mitochondrial Myopathies / complications
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Mitochondrial Myopathies / drug therapy
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Mitochondrial Myopathies / genetics*
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Mitochondrial Myopathies / metabolism
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Muscle, Skeletal / pathology
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Treatment Failure
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Ubiquinone / deficiency*
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Ubiquinone / pharmacokinetics
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Ubiquinone / therapeutic use
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Vomiting / etiology
Substances
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Benzoquinones
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Lactates
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Ubiquinone
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idebenone
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Carnitine