31P NMR examination of two patients with NADH-CoQ reductase deficiency.

摘要: Mitochondrial myopathies are becoming increasingly recognized as uncommon causes of muscular disorders1 characterized by weakness and severe exercise intolerance. Electron micrographs the muscle show gross abnormality mitochondrial structure. Such defects expected to affect energy metabolism but investigations in human subjects have necessarily been limited need for biopsy material. Following extensive phosphorus nuclear magnetic resonance (31P NMR) measurements on isolated organs, tissues selected parts live animals (see ref. 2 review), it has become possible observe non-invasively vivo3–5. Here, we report abnormal recovery phosphocreatine (PCr) pH after forearm two sisters, one whom shown a NADH-coenzyme Q reductase deficiency other presumed same defect basis clinical symptoms, histology biochemical studies blood constituents6. Our results, together with normal patients impaired glycogen metabolism, allow assessment relative importance oxidative glycolytic regeneration high-energy phosphates during recovery.