Phosphorus NMR spectroscopy study of muscular enzyme deficiencies involving glycogenolysis and glycolysis.
We used phosphorus NMR spectroscopy to study 16 patients with muscular enzyme deficiencies affecting glycogenolysis and glycolysis. Study of phosphomonoester (Pm) kinetics and intracellular pH during exercise and recovery provided criteria for the distinction of these metabolic myopathies by NMR spectroscopy. The Pm peak was undetectable in patients lacking debrancher enzyme or phosphorylase. By contrast, in phosphofructokinase (PFK) or phosphoglycerate kinase (PGK) deficiency, the Pm peak was larger than that of inorganic phosphate in exercise, whereas it was always smaller in normal subjects. During recovery, the disappearance of Pm was slower in PGK than in PFK deficiency.
D000293:Adolescent; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis*; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D009943:Organophosphorus Compounds / Q000378:metabolism; D010710:Phosphates / Q000378:metabolism; D010732:Phosphofructokinase-1 / Q000172:deficiency*; D010735:Phosphoglycerate Kinase / Q000172:deficiency*; D010758:Phosphorus; D005082:Physical Exertion
D009943:Organophosphorus Compounds; D010710:Phosphates; D010758:Phosphorus; D010732:Phosphofructokinase-1; D010735:Phosphoglycerate Kinase