glycogen storage disease III (DOID:2748)
Alliance: disease page
Synonyms: amylo 1,6 glucosidase deficiency; deficiency of debranching enzyme; deficiency of dextrin; Glycogen storage disease 3; Glycogen storage disease, type III
Alt IDs: OMIM:232400, ICD10CM:E74.03, MESH:D006010, NCI:C84736, UMLS_CUI:C0017922
Definition: A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.