glycogen storage disease VIII

Term ID

DOID:2751

Synonyms

• Glycogen storage disease 8
• glycogen storage disease type VIII
• glycogenosis type VIII
• hepatic glycogen phosphorylase kinase deficiency

Definition

A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity. https://pubmed.ncbi.nlm.nih.gov/2558039/

References

• MESH:D006015
• SNOMEDCT_US_2023_03_01:41527003
• UMLS_CUI:C0017927

Ontology

Human Disease   ( DOID:2751 )