glycogen storage disease type I

URI: https://gptkb.org/entity/glycogen_storage_disease_type_I
GPTKB entity
Statements (39)
Predicate Object
gptkbp:instanceOf genetic disorder
metabolic disorder
gptkbp:affectsOrgan gptkb:kidney
liver
gptkbp:alsoKnownAs gptkb:von_Gierke_disease
GSD I
gptkbp:biochemicalDefect gptkb:glucose-6-phosphatase_deficiency
gptkbp:category glycogen storage disease
inborn error of metabolism
gptkbp:complication gptkb:hepatic_adenoma
gptkb:bone
kidney disease
gout
growth retardation
gptkbp:firstDescribed gptkb:Edgar_von_Gierke
1929
gptkbp:GSD_Ia_causedByMutationIn gptkb:G6PC_gene
gptkbp:GSD_Ib_causedByMutationIn gptkb:SLC37A4_gene
https://www.w3.org/2000/01/rdf-schema#label glycogen storage disease type I
gptkbp:ICD-10_code E74.0
gptkbp:inheritance autosomal recessive
gptkbp:mutationAssociatedWith gptkb:SLC37A4_gene
gptkb:G6PC_gene
gptkbp:OMIM 232200
gptkbp:onset infancy
gptkbp:prevalence rare
gptkbp:subspecies gptkb:GSD_Ia
gptkb:GSD_Ib
gptkbp:symptom gptkb:hypoglycemia
hepatomegaly
hyperlipidemia
lactic acidosis
hyperuricemia
gptkbp:treatment allopurinol
liver transplant
frequent feeding
uncooked cornstarch
gptkbp:bfsParent gptkb:G6PC
gptkbp:bfsLayer 7