glycogen storage disease type I

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb:metabolic_disorder
gptkbp:affectsOrgan	gptkb:kidney liver
gptkbp:alsoKnownAs	gptkb:von_Gierke_disease GSD I
gptkbp:biochemicalDefect	gptkb:glucose-6-phosphatase_deficiency
gptkbp:category	gptkb:inborn_error_of_metabolism gptkb:glycogen_storage_disease
gptkbp:complication	gptkb:kidney_disease gptkb:hepatic_adenoma gptkb:bone gout growth retardation
gptkbp:firstDescribed	gptkb:Edgar_von_Gierke 1929
gptkbp:GSD_Ia_causedByMutationIn	gptkb:G6PC_gene
gptkbp:GSD_Ib_causedByMutationIn	gptkb:SLC37A4_gene
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
http://www.w3.org/2000/01/rdf-schema#label	glycogen storage disease type I