/disorder of glycogen metabolism

disorder of glycogen metabolism

Rare Disease

MONDO:0002412

Also Known As

GSDglycogen metabolism disorderglycogen storage diseaseglycogen storage disorderglycogenosesglycogenosisinborn error of glycogen metabolic processinborn glycogen metabolic process disorderinborn glycogen storage disorderrare inborn error of glycogen metabolic process

Definition

An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.