glycogen storage disease I

Term ID

DOID:0081329

Synonyms

• Glycogen storage disease 1

Definition

A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. (3)

References

• ICD10CM:E74.01
• MESH:D005953
• NCI:C84733
• ORDO:364
• SNOMEDCT_US_2023_03_01:7265005
• UMLS_CUI:C0017920

Ontology

Human Disease   ( DOID:0081329 )