Glycogen Storage Disease Type V

URI: https://gptkb.org/entity/Glycogen_Storage_Disease_Type_V
GPTKB entity
Statements (30)
Predicate Object
gptkbp:instanceOf genetic disorder
glycogen storage disease
metabolic disorder
gptkbp:affects gptkb:skeletal_muscle
gptkbp:alsoKnownAs gptkb:McArdle_disease
gptkbp:biochemicalDefect muscle glycogen phosphorylase deficiency
gptkbp:category inborn error of metabolism
gptkbp:complication acute renal failure (from myoglobinuria)
gptkbp:diagnosedBy genetic testing
muscle biopsy
gptkbp:enzymeDeficiency myophosphorylase
gptkbp:firstDescribed gptkb:Brian_McArdle
1951
https://www.w3.org/2000/01/rdf-schema#label Glycogen Storage Disease Type V
gptkbp:ICD-10_code E74.0
gptkbp:inheritance autosomal recessive
gptkbp:locatedOnChromosome gptkb:chromosome_11q13.1
gptkbp:mutationAssociatedWith gptkb:PYGM_gene
gptkbp:OMIM 232600
gptkbp:onset childhood or adolescence
gptkbp:prevalence rare
gptkbp:symptom exercise intolerance
muscle weakness
muscle cramps
myoglobinuria
gptkbp:treatment lifestyle modification
high-protein diet
moderate aerobic exercise
gptkbp:bfsParent gptkb:Glycogen_Storage_Disease
gptkbp:bfsLayer 6