Glycogen Storage Disease Type I

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb:metabolic_disorder
gptkbp:affects	glucose metabolism
gptkbp:affectsOrgan	gptkb:kidney liver intestine (GSD Ib)
gptkbp:alsoKnownAs	gptkb:von_Gierke_disease
gptkbp:category	gptkb:glycogen_storage_disease
gptkbp:complication	gptkb:kidney_disease gptkb:hepatic_adenoma growth retardation
gptkbp:diagnosedBy	liver biopsy genetic testing blood tests
gptkbp:firstDescribed	gptkb:Edgar_von_Gierke 1929
gptkbp:frequency	gptkb:rare_disease
gptkbp:GSD_Ia_causedByMutationIn	gptkb:G6PC_gene
gptkbp:GSD_Ib_causedByMutationIn	gptkb:SLC37A4_gene
gptkbp:GSD_Ib_symptom	gptkb:inflammatory_bowel_disease neutropenia recurrent infections
gptkbp:ICD-10_code	E74.0
gptkbp:inheritance	autosomal recessive Mendelian
gptkbp:mutationAssociatedWith	gptkb:SLC37A4_gene gptkb:G6PC_gene
gptkbp:OMIM	232200
gptkbp:onset	infancy
gptkbp:prevalence	~1 in 100,000 births
gptkbp:relatedTo	gptkb:glucose-6-phosphatase_deficiency gptkb:glucose-6-phosphate_translocase_deficiency glycogen metabolism
gptkbp:subspecies	gptkb:GSD_Ia gptkb:GSD_Ib
gptkbp:symptom	gptkb:hypoglycemia hepatomegaly hyperlipidemia lactic acidosis hyperuricemia
gptkbp:treatment	allopurinol frequent feeding liver transplant (in severe cases) uncooked cornstarch
gptkbp:bfsParent	gptkb:Glycogen_Storage_Disease
gptkbp:bfsLayer	6
https://www.w3.org/2000/01/rdf-schema#label	Glycogen Storage Disease Type I