glycogen storage disease III

Term ID

DOID:2748

Synonyms

• amylo 1,6 glucosidase deficiency
• deficiency of debranching enzyme
• deficiency of dextrin
• Glycogen storage disease 3
• Glycogen storage disease, type III

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. https://pubmed.ncbi.nlm.nih.gov/17047887/

References

• ICD10CM:E74.03
• MESH:D006010
• NCI:C84736
• OMIM:232400
• SNOMEDCT_US_2023_03_01:66937008
• UMLS_CUI:C0017922

Ontology

Human Disease   ( DOID:2748 )