Glycogen Storage Disease Type III

GPTKB entity

Statements (35)
Predicate Object
gptkbp:instanceOf genetic disorder
glycogen storage disease
gptkbp:affects gptkb:skeletal_muscle
liver
gptkbp:alsoKnownAs gptkb:Cori_disease
gptkb:Forbes_disease
gptkbp:category metabolic disorder
gptkbp:complication gptkb:bone
liver cirrhosis
cardiomyopathy
gptkbp:deficiencyCauses glycogen debranching enzyme
gptkbp:diagnosedBy liver biopsy
genetic testing
gptkbp:firstDescribed gptkb:Edgar_Otto_Forbes
gptkb:Gerty_Cori
https://www.w3.org/2000/01/rdf-schema#label Glycogen Storage Disease Type III
gptkbp:ICD-10_code E74.0
gptkbp:inheritance autosomal recessive
gptkbp:mutationAssociatedWith gptkb:AGL_gene
gptkbp:OMIM 232400
gptkbp:onset childhood
gptkbp:prevalence rare
gptkbp:subspecies Type IIIa
Type IIIb
Type IIIc
Type IIId
gptkbp:symptom gptkb:hypoglycemia
muscle weakness
hepatomegaly
growth retardation
gptkbp:treatment high-protein diet
frequent meals
uncooked cornstarch
gptkbp:bfsParent gptkb:Glycogen_Storage_Disease
gptkbp:bfsLayer 6