Abstract
We studied a 17-year-old girl with subacute necrotizing encephalomyelopathy (Leigh syndrome). Lactate and pyruvate levels were increased in serum and cerebrospinal fluid. The oxidation rates of all substrates tested, i.e. pyruvate in liver, and pyruvate, malate and 2-oxoglutarate in muscle, were decreased, as was the production of adenosine triphosphate plus creatine phosphate. Cytochrome content was normal. The data imply a defect in oxidative phosphorylation, outside the cytochrome region.
MeSH terms
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Adolescent
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Brain / pathology
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Brain Diseases, Metabolic / enzymology*
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Enzymes / metabolism
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Female
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Humans
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Ketoglutaric Acids / metabolism*
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Lactates / metabolism
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Lactic Acid
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Leigh Disease / enzymology*
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Leigh Disease / genetics
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Leigh Disease / pathology
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Liver / enzymology*
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Malates / metabolism*
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Muscles / enzymology*
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Oxidation-Reduction
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Phosphorylation
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Pyruvates / metabolism*
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Pyruvic Acid
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Spinal Cord / pathology
Substances
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Enzymes
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Ketoglutaric Acids
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Lactates
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Malates
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Pyruvates
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Lactic Acid
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malic acid
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Pyruvic Acid