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