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Glycogen storage disease II; GSD2

Disease ID:398
Name:Glycogen storage disease II; GSD2
Associated with:1 target
Synonyms
Glycogen storage disease due to acid maltase deficiency | Glycogen storage disease due to acid maltase deficiency, adult onset | Glycogen storage disease due to acid maltase deficiency, infantile onset | Glycogen storage disease due to acid maltase deficiency, juvenile onset | Pompe disease
Database Links
Disease Ontology: DOID:2752
OMIM: 232300
Orphanet: ORPHA308604, ORPHA365, ORPHA308552, ORPHA308573

Targets

alpha glucosidase
Role:  Pompe disease is a progressive and debilitating muscle disorder. It is caused by deficiency of functional lysosomal acid alpha-glucosidase (GAA) which leads to accummulation of glucose in muscle cells, that causes irreversible cell damage. The most deleterious effects are due to wasting of the muscles required for respiratory function and mobility.
Comments:  Recombinant alpha glucosidase agents are used as enzyme replacement therapies to treat Pompe disease. Approved agents include Lumizyme® (alglucosidase alfa; 2010) and Nexviazyme® (avalglucosidase alfa-ngpt; 2021).

Ligands

No ligand related data available for Glycogen storage disease II; GSD2