STBD1 and glycogen storage disease II: Based on these findings, Stbd1 was considered an attractive target for therapy for Pompe disease (glycogen storage disease type II; OMIM #232300), a severe metabolic myopathy characterized by the intralysosomal accumulation of glycogen due to the inherited deficiency of the enzyme acid α-glucosidase (GAA) (Chen et al., 2009).