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  • Title: Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver.
    Author: Van Erven PM, Gabreëls FJ, Ruitenbeek W, Den Hartog MR, Fischer JC, Renier WO, Trijbels JM, Slooff JL, Janssen AJ.
    Journal: Acta Neurol Scand; 1985 Jul; 72(1):36-42. PubMed ID: 4050316.
    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.
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