Glycogen storage disease III
Glycogen storage disease III
Definition
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.
Also known as AGL glycogen storage disease, amylo-1,6-glucosidase deficiency, Cori disease, Cori-Forbes disease, Forbes disease, GDE deficiency, glycogen storage disease caused by mutation in AGL, glycogen storage disease III, glycogen storage disease type 3, glycogen storage disease type III, glycogenosis due to glycogen debranching enzyme deficiency, glycogenosis type 3, glycogenosis type III, GSD due to glycogen debranching enzyme deficiency, GSD type 3, GSDIII, limit dextrinosis — per MONDO