title: Intravenous pyruvate loading test in Leigh syndrome.
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.
mesh_terms: D001928:Brain Diseases, Metabolic / Q000503:physiopathology*; D002478:Cells, Cultured; D002952:Citric Acid Cycle; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007888:Leigh Disease / Q000378:metabolism / Q000503:physiopathology*; D010084:Oxidation-Reduction; D011773:Pyruvates / Q000378:metabolism; D019289:Pyruvic Acid
chemical_list: D011773:Pyruvates; D019289:Pyruvic Acid