glycogen storage disease type II

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:disease gptkb:glycogen_storage_disease
gptkbp:affects	gptkb:lysosomal_acid_alpha-glucosidase
gptkbp:affectsOrgan	gptkb:skeletal_muscle heart liver
gptkbp:alsoKnownAs	gptkb:Pompe_disease
gptkbp:category	gptkb:metabolic_disorder gptkb:rare_disease
gptkbp:complication	respiratory failure cardiac failure
gptkbp:diagnosedBy	genetic testing enzyme assay
gptkbp:firstDescribed	gptkb:Johannes_C._Pompe 1932
gptkbp:ICD-10_code	E74.0
gptkbp:inheritance	autosomal recessive
gptkbp:mutationAssociatedWith	gptkb:GAA_gene
gptkbp:OMIM	232300
gptkbp:onset	infantile late-onset
gptkbp:prevalence	1 in 40,000
gptkbp:result	glycogen accumulation
gptkbp:subspecies	infantile-onset Pompe disease late-onset Pompe disease
gptkbp:symptom	muscle weakness cardiomegaly respiratory difficulties
gptkbp:treatment	gptkb:enzyme_replacement_therapy
gptkbp:bfsParent	gptkb:Myozyme gptkb:Pompe_disease
gptkbp:bfsLayer	7
http://www.w3.org/2000/01/rdf-schema#label	glycogen storage disease type II