Ontology highlight
ABSTRACT:
SUBMITTER: McCall AL
PROVIDER: S-EPMC8053439 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
McCall Angela L AL Dhindsa Justin S JS Bailey Aidan M AM Pucci Logan A LA Strickland Laura M LM ElMallah Mai K MK
Journal of smooth muscle research = Nihon Heikatsukin Gakkai kikanshi 20210101 0
Pompe disease is a lysosomal storage disease caused by mutations within the GAA gene, which encodes acid α-glucosidase (GAA)-an enzyme necessary for lysosomal glycogen degradation. A lack of GAA results in an accumulation of glycogen in cardiac and skeletal muscle, as well as in motor neurons. The only FDA approved treatment for Pompe disease-an enzyme replacement therapy (ERT)-increases survival of patients, but has unmasked previously unrecognized clinical manifestations of Pompe disease. Thes ...[more]