Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
glycogen storage disease
metabolic disorder |
| gptkbp:affectsOrgan |
gptkb:kidney
liver |
| gptkbp:alsoKnownAs |
gptkb:glycogen_storage_disease_type_I
|
| gptkbp:causedByDeficiencyOf |
gptkb:glucose-6-phosphatase
|
| gptkbp:complication |
kidney disease
gout growth retardation |
| gptkbp:diagnosedBy |
liver biopsy
genetic testing |
| gptkbp:firstDescribed |
gptkb:Edgar_von_Gierke
1929 |
| https://www.w3.org/2000/01/rdf-schema#label |
Von Gierke disease
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:G6PC_gene
|
| gptkbp:OMIM |
232200
|
| gptkbp:symptom |
gptkb:hypoglycemia
hepatomegaly hyperlipidemia lactic acidosis hyperuricemia |
| gptkbp:treatment |
avoidance of fasting
frequent feeding with cornstarch |
| gptkbp:bfsParent |
gptkb:glycogen_storage_diseases
|
| gptkbp:bfsLayer |
7
|