Catalog

Glycogen storage disease due to muscle beta-enolase deficiency

No MMS code

Link to WHO Definition

Glycogen storage disease due to muscle beta-enolase deficiency – http://id.who.int/icd/entity/821809975

Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterised clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.