Abstract
We report reduced respiratory chain enzyme activity in isolated muscle mitochondria and high levels of serum and CSF pyruvate and lactate in a case of cerebrotendinous xanthomatosis. These findings raise the question of the pathogenetic role of mitochondrial dysfunction in this syndrome.
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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Adult
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Biopsy
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Brain Diseases / enzymology*
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Electron Transport / physiology
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Female
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Humans
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Lactates / metabolism*
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Lactic Acid
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Mitochondria, Muscle / enzymology*
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Muscles / pathology
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Pyruvates / metabolism*
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Pyruvic Acid
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Tendons / pathology*
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Xanthomatosis / enzymology*
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Xanthomatosis / pathology
Substances
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Lactates
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Pyruvates
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Lactic Acid
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Pyruvic Acid