/glycogen storage disease due to muscle beta-enolase deficiency

glycogen storage disease due to muscle beta-enolase deficiency

Rare Disease

MONDO:0013046

Also Known As

GSD due to muscle beta-enolase deficiencyGSDXIIIglycogen storage disease due to muscle beta-enolase deficiencyglycogen storage disease type 13glycogenosis due to muscle beta-enolase deficiencyglycogenosis type 13muscle enolase deficiencymuscular enolase deficiencyGSD 13GSD13enolase 3 deficiencyenolase-Beta deficiencyglycogen storage disease 13glycogen storage disease XIII

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.