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
|