Glycogen Storage Disease Type Ia
GPTKB entity
Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
glycogen storage disease |
| gptkbp:affects |
glucose-6-phosphatase enzyme
|
| gptkbp:affectsOrgan |
gptkb:kidney
liver |
| gptkbp:alsoKnownAs |
gptkb:von_Gierke_disease
|
| gptkbp:category |
inborn error of metabolism
|
| gptkbp:cause |
impaired gluconeogenesis
impaired glycogenolysis |
| gptkbp:complication |
kidney disease
growth retardation hepatic adenomas |
| gptkbp:diagnosedBy |
liver biopsy
genetic testing |
| gptkbp:firstDescribed |
gptkb:Edgar_von_Gierke
1929 |
| https://www.w3.org/2000/01/rdf-schema#label |
Glycogen Storage Disease Type Ia
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:G6PC_gene
|
| gptkbp:OMIM |
232200
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoglycemia
hepatomegaly hyperlipidemia lactic acidosis hyperuricemia |
| gptkbp:treatment |
allopurinol
frequent feeding uncooked cornstarch lipid-lowering agents |
| gptkbp:bfsParent |
gptkb:DTX402
|
| gptkbp:bfsLayer |
7
|