Statements (36)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
glycogen storage disease
metabolic myopathy |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:alsoKnownAs |
GSD V
glycogen storage disease type V |
| gptkbp:category |
inborn error of metabolism
|
| gptkbp:complication |
acute renal failure
rhabdomyolysis |
| gptkbp:deficiencyCauses |
muscle glycogen phosphorylase
|
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy ischemic forearm exercise test |
| gptkbp:firstDescribed |
gptkb:Brian_McArdle
1951 |
| gptkbp:hasOrphanetID |
ORPHA:358
|
| https://www.w3.org/2000/01/rdf-schema#label |
McArdle disease
|
| gptkbp:ICD-10_code |
E74.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:PYGM_gene
|
| gptkbp:OMIM |
232600
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
exercise intolerance
fatigue muscle weakness muscle cramps myoglobinuria second wind phenomenon |
| gptkbp:treatment |
lifestyle modification
high-protein diet regular aerobic exercise sucrose supplementation before exercise |
| gptkbp:bfsParent |
gptkb:Glycogen_phosphorylase
gptkb:glycogen_phosphorylase gptkb:glycogen_storage_diseases gptkb:Glycogen_Storage_Disease_Type_V |
| gptkbp:bfsLayer |
7
|