glucose-6-phosphatase deficiency
GPTKB entity
Statements (31)
Predicate | Object |
---|---|
gptkbp:instanceOf |
glycogen storage disease
metabolic disorder |
gptkbp:affects |
glucose metabolism
|
gptkbp:alsoKnownAs |
gptkb:von_Gierke_disease
GSD type I |
gptkbp:causedBy |
mutation in G6PC gene
|
gptkbp:complication |
gptkb:bone
kidney disease 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 |
https://www.w3.org/2000/01/rdf-schema#label |
glucose-6-phosphatase deficiency
|
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
|