Disease association ontology term - MONDO:0009290 - glycogen storage disease II
Term summary
- ID
- MONDO:0009290
- Name
- glycogen storage disease II
- Ontology or CV name
- Disease association
- Definition
- Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.
