Diagnosis of muscular glycogenosis by in vivo natural abundance 13C NMR spectroscopy.
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.
Jehenson
P
P
Service Hospitalier Frederic Joliot, CEA, Orsay, France.
Duboc
D
D
Bloch
G
G
Fardeau
M
M
Syrota
A
A
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
D006003:Glycogen; D003401:Creatine