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.
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Labrune, P., Jehenson, P., Syrota, A. et al. In vivo 13C-NMR evaluation of glycogen content in a patient with glycogen storage disease. J Inherit Metab Dis 15, 723–726 (1992). https://doi.org/10.1007/BF01800013
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DOI: https://doi.org/10.1007/BF01800013