Pompe disease or glycogen storage disease type II (OMIM: 232300) is
a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase,
which may produce muscle weakness, gait abnormalities, or even
death by respiratory failure. In the last decade, autophagy has been proposed as a
mechanism involved in the severity of symptoms related to this disorder and as a
potential therapeutic target to alleviate disease progression. This review
summarizes the relationship between autophagy and Pompe disease, including
what information has been recently discovered and what remains unclear.
Keywords: Autophagy, Glycogen synthase, LC3, Lysosomes, Pompe disease, Recombinant human GAA.
Rights & PermissionsPrintExport