|
gptkbp:instanceOf
|
gptkb:metabolic_myopathy
gptkb:glycogen_storage_disease
|
|
gptkbp:affects
|
gptkb:skeletal_muscle
|
|
gptkbp:alsoKnownAs
|
GSD V
glycogen storage disease type V
|
|
gptkbp:category
|
gptkb: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
|
|
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
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
McArdle disease
|