Glycogen Branching Enzyme Deficiency
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
glycogen storage disease |
| gptkbp:affects |
glycogen metabolism
|
| gptkbp:alsoKnownAs |
gptkb:Andersen_disease
gptkb:Glycogen_Storage_Disease_Type_IV |
| gptkbp:cause |
muscle weakness
abnormal glycogen structure failure to thrive hepatosplenomegaly progressive liver disease |
| gptkbp:characterizedBy |
deficiency of glycogen branching enzyme
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1956
|
| https://www.w3.org/2000/01/rdf-schema#label |
Glycogen Branching Enzyme Deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:GBE1_gene
|
| gptkbp:namedAfter |
gptkb:Dorothy_Andersen
|
| gptkbp:onset |
infancy or early childhood
|
| gptkbp:prognosis |
poor without liver transplantation
|
| gptkbp:treatment |
liver transplantation
|
| gptkbp:bfsParent |
gptkb:GBS
|
| gptkbp:bfsLayer |
5
|