Glycogen storage disease due to glycogen branching enzyme deficiency
Glycogen storage disease due to glycogen branching enzyme deficiency
Definition
Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.
Also known as amylopectinosis, Andersen disease, Andersen Disease (GSD IV), Andersen's disease, GBE1 glycogen storage disease, glycogen storage disease caused by mutation in GBE1, glycogen storage disease due to glycogen branching enzyme deficiency, glycogen storage disease type 4, glycogen storage disease type IV, glycogenosis due to glycogen branching enzyme deficiency, glycogenosis type 4, glycogenosis type IV, GSD due to glycogen branching enzyme deficiency, GSD type 4, GSD type IV — per MONDO