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

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