Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
glucose metabolism
|
| gptkbp:alsoKnownAs |
gptkb:von_Gierke_disease
|
| gptkbp:category |
gptkb:inborn_error_of_metabolism
|
| gptkbp:complication |
gptkb:kidney_disease
gptkb:hepatic_adenoma growth retardation |
| gptkbp:deficiencyCauses |
gptkb:glucose-6-phosphatase
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:fullName |
gptkb:Glycogen_Storage_Disease_Type_Ia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:G6PC_gene
|
| gptkbp:namedAfter |
gptkb:Edgar_von_Gierke
|
| gptkbp:OMIM |
232200
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoglycemia
hepatomegaly hyperlipidemia lactic acidosis hyperuricemia |
| gptkbp:treatment |
dietary management
cornstarch therapy |
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease_Type_I
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
GSD Ia
|