Glycogen Storage Disease Type I

URI: https://gptkb.org/entity/Glycogen_Storage_Disease_Type_I
GPTKB entity
Statements (47)
Predicate Object
gptkbp:instanceOf genetic disorder
metabolic disorder
gptkbp:affects glucose metabolism
gptkbp:affectsOrgan gptkb:kidney
liver
intestine (GSD Ib)
gptkbp:alsoKnownAs gptkb:von_Gierke_disease
gptkbp:category glycogen storage disease
gptkbp:complication gptkb:hepatic_adenoma
kidney disease
growth retardation
gptkbp:diagnosedBy liver biopsy
genetic testing
blood tests
gptkbp:firstDescribed gptkb:Edgar_von_Gierke
1929
gptkbp:frequency rare disease
gptkbp:GSD_Ia_causedByMutationIn gptkb:G6PC_gene
gptkbp:GSD_Ib_causedByMutationIn gptkb:SLC37A4_gene
gptkbp:GSD_Ib_symptom neutropenia
recurrent infections
inflammatory bowel disease
https://www.w3.org/2000/01/rdf-schema#label Glycogen Storage Disease Type I
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