glycogen storage disease type 0
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
glycogen storage disease
metabolic disorder |
| gptkbp:affects |
liver
|
| gptkbp:causedBy |
mutation in GYS2 gene
|
| gptkbp:characterizedBy |
deficiency of liver glycogen synthase
|
| gptkbp:firstDescribed |
1963
|
| https://www.w3.org/2000/01/rdf-schema#label |
glycogen storage disease type 0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
240600
|
| gptkbp:otherName |
GSD 0
glycogen synthase deficiency |
| gptkbp:symptom |
gptkb:hypoglycemia
growth retardation ketosis |
| gptkbp:treatment |
frequent meals
uncooked cornstarch |
| gptkbp:bfsParent |
gptkb:GYS2
gptkb:glycogen_synthase gptkb:Glycogen_synthase |
| gptkbp:bfsLayer |
7
|