Glycogen storage disease type 13

Disease Overview

Glycogen storage disease type 13 (GSD13), also known as β-enolase deficiency, is an inherited disease of the muscles.  The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain.  GSD13 is caused by changes (mutations) in the ENO3 gene and is inherited in an autosomal recessive pattern.[5281]

Synonyms

• GSD13
• Glycogen storage disease 13
• Enolase-beta deficiency
• Enolase 3 deficiency