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  • Title: Intravenous pyruvate loading test in Leigh syndrome.
    Author: Van Erven PM, Gabreëls FJ, Wevers RA, Doesburg WH, Ruitenbeek W, Renier WO, Lamers KJ.
    Journal: J Neurol Sci; 1987 Feb; 77(2-3):217-27. PubMed ID: 3819766.
    Abstract:
    Diagnosis of defective pyruvate metabolism can present difficulties in clinical practice. In search of a diagnostic procedure that can give a clear indication of a disturbance of pyruvate metabolism, we have developed an intravenous pyruvate loading test. The loading test was applied to 9 patients with Leigh syndrome. Results and characteristics are described. The test proved to be a sensitive procedure to detect disturbances in pyruvate oxidation. The intravenous pyruvate loading test can be a useful tool in the diagnosis of mitochondrial (encephalo) myopathies.
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