Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Genetic disorder
Metabolic disorder |
| gptkbp:affects |
Glycogen metabolism
|
| gptkbp:affectsOrgan |
gptkb:Heart
Liver Muscle |
| gptkbp:causedBy |
Enzyme deficiency
|
| gptkbp:diagnosedBy |
Enzyme assay
Genetic testing Liver biopsy |
| gptkbp:firstDescribed |
1929
|
| https://www.w3.org/2000/01/rdf-schema#label |
Glycogen Storage Disease
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
Autosomal recessive
|
| gptkbp:namedAfter |
Glycogen
|
| gptkbp:OMIM |
232200
|
| gptkbp:prevalence |
Rare
|
| gptkbp:subspecies |
gptkb:Glycogen_Storage_Disease_Type_IV
gptkb:Glycogen_Storage_Disease_Type_I gptkb:Glycogen_Storage_Disease_Type_II gptkb:Glycogen_Storage_Disease_Type_III gptkb:Glycogen_Storage_Disease_Type_IX gptkb:Glycogen_Storage_Disease_Type_V gptkb:Glycogen_Storage_Disease_Type_VI |
| gptkbp:symptom |
Hypoglycemia
Growth retardation Hepatomegaly Muscle weakness |
| gptkbp:treatment |
Cornstarch therapy
Dietary management Liver transplant |
| gptkbp:bfsParent |
gptkb:GSD
|
| gptkbp:bfsLayer |
5
|