glucose-6-phosphate translocase deficiency
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
glycogen storage disease inborn error of metabolism |
| gptkbp:affects |
glucose-6-phosphate translocase
|
| gptkbp:alsoKnownAs |
GSD type Ib
glycogen storage disease type Ib |
| gptkbp:complication |
inflammatory bowel disease
|
| gptkbp:diagnosedBy |
genetic testing
clinical features |
| gptkbp:firstDescribed |
1978
|
| https://www.w3.org/2000/01/rdf-schema#label |
glucose-6-phosphate translocase deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SLC37A4_gene
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoglycemia
neutropenia recurrent infections hepatomegaly growth retardation |
| gptkbp:treatment |
gptkb:granulocyte_colony-stimulating_factor
cornstarch therapy |
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease_Type_I
|
| gptkbp:bfsLayer |
7
|