Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Definition
Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
Also known as glycogen storage disease due to muscle beta-enolase deficiency, glycogen storage disease type 13, glycogenosis due to muscle beta-enolase deficiency, glycogenosis type 13, GSD due to muscle beta-enolase deficiency, GSDXIII, muscle enolase deficiency, muscular enolase deficiency — per MONDO