title: Diagnosis of muscular glycogenosis by in vivo natural abundance 13C NMR spectroscopy.
abstract: Natural abundance 13C NMR (nuclear magnetic resonance) spectroscopy was used to distinguish patients suffering from muscle glycogenosis type V (McArdle's disease) from normal subjects by measuring their muscle glycogen content at rest. Proton-decoupled 13C spectra were obtained in 10-15 min from calf muscles at rest. The ratio of the glycogen/creatine signal areas was 12.9 +/- 1.7 in four McArdle's disease patients and 2.0 +/- 0.7 in seven normal subjects. This technique thus allows the non-invasive diagnosis of muscle glycogenosis.
authors.affiliation: Service Hospitalier Frederic Joliot, CEA, Orsay, France.
authors.forename: P
authors.initials: P
authors.lastname: Jehenson
authors.forename: D
authors.initials: D
authors.lastname: Duboc
authors.forename: G
authors.initials: G
authors.lastname: Bloch
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: A
authors.initials: A
authors.lastname: Syrota
mesh_terms: D000328:Adult; D003401:Creatine / Q000737:chemistry; D006003:Glycogen / Q000737:chemistry; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008875:Middle Aged; D009132:Muscles / Q000737:chemistry
chemical_list: D006003:Glycogen; D003401:Creatine