Abstract #2979

Characterization of glycogen storage disease type III using glycoNOE MRI

Qing Zeng^1,2, Chongxue Bie^1,2, Peter C.M. van Zijl^1,2, Yuguo Li^1,2, Valentina D'souza^1,2, Michael Machado³, Kirsten Achilles Poon³, Andrew Grimm³, and Nirbhay N. Yadav^1,2

¹The Russell H. Morgan Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, MD, United States, ²F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, MD, United States, ³Ultragenyx Pharmaceutical Inc., Novato, CA, United States

Synopsis

Keywords: CEST & MT, CEST & MT, liverGlycogen storage disease type III (GSD III) is characterized by abnormally high glycogen accumulation in liver, muscle, and heart. Treatments such as diet modification and drugs are currently being developed, but there is a lack of suitable methods for assessing disease load and possible treatment efficacy. Recently, it was shown that glycoNOE MRI can image glycogen levels in vivo and here we apply this technique to distinguish GSD III from controls in a mouse model. The results show that glycoNOE can clearly distinguish GSD III and that glycoNOE contrast exhibits a linear correlation with ex vivo quantification of glycogen levels.

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