Glycogen Storage Disease Type III
GPTKB entity
Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:glycogen_storage_disease |
| gptkbp:affects |
gptkb:skeletal_muscle
liver |
| gptkbp:alsoKnownAs |
gptkb:Cori_disease
gptkb:Forbes_disease |
| gptkbp:category |
gptkb:metabolic_disorder
|
| gptkbp:complication |
gptkb:bone
gptkb:cardiomyopathy liver cirrhosis |
| gptkbp:deficiencyCauses |
glycogen debranching enzyme
|
| gptkbp:diagnosedBy |
liver biopsy
genetic testing |
| gptkbp:firstDescribed |
gptkb:Edgar_Otto_Forbes
gptkb:Gerty_Cori |
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
Glycogen Storage Disease Type III
|