A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. [ url:http://www.ncbi.nlm.nih.gov/books/NBK1312/ http://purl.obolibrary.org/obo/ECO_0007646 url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I url:http://en.wikipedia.org/wiki/Von_Gierke%27s_disease http://purl.obolibrary.org/obo/ECO_0007638 ]
Synonyms: Glycogen storage disease, type I von Gierke's disease von Gierke disease glycogen storage disease type I deficiency of glucose-6-phosphatase glycogenosis type I
Term information
- NCI:C84733
- UMLS_CUI:C0017920
- OMIM:232240
- ICD10CM:E74.01
- OMIM:232220
- OMIM:232200
- MESH:D005953
- SNOMEDCT_US_2020_09_01:7265005
NCIthesaurus
Term relations
- glycogen storage disease
- has_symptom some left upper quadrant abdominal rigidity
- has_symptom some hepatomegaly