Glycogen storage disease Type V (McArdle) - (AR)
Også kjent som: McArdle sykdom
Engelsk navn: Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Engelske synonym: GSD due to muscle glycogen phosphorylase deficiency,GSD type 5,GSD type V,Glycogen storage disease type 5,Glycogen storage disease type V,Glycogenosis due to muscle glycogen phosphorylase deficiency,Glycogenosis type 5,Glycogenosis type V,McArdle disease,Myophosphorylase deficiency
Definisjon
Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.
Fra Orphanet
ORPHA: 368
Klassifiseringsnivå: Disorder
ICD-10: E74.0
Mer informasjon
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