Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
gptkb:skeletal_muscle
liver glycogen metabolism |
| gptkbp:alsoKnownAs |
gptkb:GSD
|
| gptkbp:cause |
gptkb:hypoglycemia
muscle weakness hepatomegaly abnormal storage of glycogen |
| gptkbp:diagnosedBy |
liver biopsy
genetic testing enzyme assay |
| gptkbp:firstDescribed |
1929
|
| https://www.w3.org/2000/01/rdf-schema#label |
glycogen storage diseases
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
gptkb:Cori_disease
gptkb:Hers_disease gptkb:Lafora_disease gptkb:McArdle_disease gptkb:Tarui_disease gptkb:Von_Gierke_disease gptkb:Andersen_disease gptkb:Pompe_disease |
| gptkbp:symptom |
exercise intolerance
enlarged liver muscle cramps growth retardation |
| gptkbp:treatment |
dietary management
enzyme replacement therapy cornstarch therapy |
| gptkbp:bfsParent |
gptkb:glycogen
gptkb:PAS_stain |
| gptkbp:bfsLayer |
6
|