Pompe disease is caused by an abnormal accumulation of glycogen in the lysosomes of multiple tissues including the brain due to a deficit in acid α-glucosidase (GAA). The development of enzyme replacement therapy with recombinant human GAA (rhGAA) has dramatically improved patients’ survival, however, rhGAA does not reach the brain which remains untreated. Consequently, classic-infantile Pompe patients may develop progressive white matter lesions and cognitive problems. Here, we used single-voxel 1H MRS and spectroscopic imaging and found an accumulation of glycogen and significant decrease in total-N-acetyl-aspartate in the brain of classic-infantile patients (n=3) when compared to age-matched healthy controls (n=3).
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