Statements (27)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:affects |
glucose metabolism
|
gptkbp:alsoKnownAs |
gptkb:von_Gierke_disease
|
gptkbp:category |
inborn error of metabolism
|
gptkbp:complication |
gptkb:hepatic_adenoma
kidney disease growth retardation |
gptkbp:deficiencyCauses |
gptkb:glucose-6-phosphatase
|
gptkbp:diagnosedBy |
genetic testing
enzyme assay |
gptkbp:fullName |
gptkb:Glycogen_Storage_Disease_Type_Ia
|
https://www.w3.org/2000/01/rdf-schema#label |
GSD 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
|