Glycogen storage disease due to glycogen debranching enzyme deficiency
Engelsk navn: Glycogen storage disease due to glycogen debranching enzyme deficiency
Engelske synonym: Amylo-1,6-glucosidase deficiency,Cori disease,Cori-Forbes disease,Forbes disease,GDE deficiency,GSD due to glycogen debranching enzyme deficiency,GSD type 3,GSDIII,Glycogen storage disease type 3,Glycogen storage disease type III,Glycogenosis due to glycogen debranching enzyme deficiency,Glycogenosis type 3,Glycogenosis type III,Limit dextrinosis
Definisjon
Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.
Fra Orphanet
ORPHA: 366
Klassifiseringsnivå: Disorder
ICD-10: E74.0
Mer informasjon
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