title: In vivo 13C-NMR evaluation of glycogen content in a patient with glycogen storage disease.
abstract: Glycogen storage disease was suspected in a 10-month-old boy. Initial technical problems did not permit the determination of the precise enzyme, deficiency, and type VI glycogen storage disease was only diagnosed at the age of 2 years. In the mean time, natural abundance 13C nuclear magnetic resonance evaluation of muscular and hepatic glycogen content indicated normal muscular glycogen and increased hepatic glycogen in our patient, a finding which strongly argued for the diagnosis of type VI glycogen storage disease. Even though the use of nuclear magnetic resonance might seem, in this situation, a somewhat circuitous means of reaching the diagnosis, it appears that nuclear magnetic resonance could provide a useful tool for a non-invasive diagnosis of glycogen storage diseases.
authors.affiliation: Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France.
authors.forename: P
authors.initials: P
authors.lastname: Labrune
authors.forename: P
authors.initials: P
authors.lastname: Jehenson
authors.forename: A
authors.initials: A
authors.lastname: Syrota
authors.forename: M
authors.initials: M
authors.lastname: Odièvre
mesh_terms: D003401:Creatine / Q000097:blood; D006003:Glycogen / Q000097:blood*; D006008:Glycogen Storage Disease / Q000097:blood* / Q000175:diagnosis; D006012:Glycogen Storage Disease Type V / Q000097:blood / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008112:Liver Glycogen / Q000378:metabolism; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009132:Muscles / Q000378:metabolism
chemical_list: D008112:Liver Glycogen; D006003:Glycogen; D003401:Creatine