[Study of metabolic myopathies using 1H NMR spectroscopy--analysis of muscle metabolites and muscle autolytic change].

Muscle metabolites of perchloric acid extracts were analyzed using 1H NMR spectroscopy. Several metabolites including lactate, pyruvate, creatine, phosphocreatine, carnitine, acetate and alanine were easily recognized. Muscles frozen with isopentane cooled by liquid nitrogen did not show any significant differences from those directly frozen by liquid nitrogen regarding the contents of metabolites, however moderate delay until freezing the muscle specimens produced considerable biochemical changes. In human application using the biopsied muscle of the patient with myophosphorylase deficiency, in vitro anaerobic glycolysis experiments clearly detects the defect in glycolytic pathway by 1H NMR spectroscopy, revealing the abnormal lactate production blocked between glycogen and glucose-1-phosphate. These data suggests that 1H NMR spectroscopy is useful for analysis of metabolic myopathies.