glucose-6-phosphatase deficiency
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:metabolic_disorder
gptkb:glycogen_storage_disease |
| gptkbp:affects |
glucose metabolism
|
| gptkbp:alsoKnownAs |
gptkb:von_Gierke_disease
GSD type I |
| gptkbp:causedBy |
mutation in G6PC gene
|
| gptkbp:complication |
gptkb:kidney_disease
gptkb:bone growth retardation liver adenomas |
| gptkbp:firstDescribed |
gptkb:Edgar_von_Gierke
1929 |
| gptkbp:GSD_type_Ia_causedBy |
G6PC gene mutation
|
| gptkbp:GSD_type_Ib_causedBy |
SLC37A4 gene mutation
|
| gptkbp:GSD_type_Ib_symptom |
neutropenia
recurrent infections |
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
GSD type Ia
GSD type Ib |
| gptkbp:symptom |
gptkb:hypoglycemia
hepatomegaly hyperlipidemia lactic acidosis hyperuricemia |
| gptkbp:treatment |
dietary management
cornstarch therapy frequent feeding |
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease_Type_I
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
glucose-6-phosphatase deficiency
|