MRI monitors the abnormal muscle glycogen and creatine kinase activity in Pompe disease mice

Pompe disease (PD) is a glycogen storage disease, characterized by progressive lysosomal glycogen accumulation and changes in energy metabolite levels. There is a lack of methods to noninvasively assess PD progression and treatment response. We demonstrate that saturation transfer MRI can detect changes in glycogen, total creatine (tCr), and phosphocreatine (PCr) in a mouse model of PD and show more than doubling of muscle glycogen levels and a gradual decrease of tCr and PCr levels with age. The simultaneous mapping of these energy metabolites with MRI has potential to assess PD and other diseases involving mitochondrial or energy metabolic disorders.