glycogen storage disease II

Term ID

DOID:2752

Synonyms

• acid maltase deficiency
• deficiency of glucoamylase
• deficiency of maltase
• Generalized glycogenosis
• Glycogen storage disease 2
• glycogen storage disease type II
• Glycogen storage disease, type II
• Glycogenosis, type 2
• Lysosomal alpha-1,4-glucosidase deficiency
• Pompe's disease

Definition

A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II

References

• GARD:5714
• ICD10CM:E74.02
• MESH:D006009
• MIM:232300
• NCI:C84734
• SNOMEDCT_US_2023_03_01:237967002
• UMLS_CUI:C0017921

Ontology

Human Disease   ( DOID:2752 )