In vivo13C‐NMR evaluation of glycogen content in a patient with glycogen storage disease

Publisher Website
Google Scholar
Abstract
Summary: 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 abundance13C 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.