Glycogen storage disease due to muscle beta-enolase deficiency
What is Glycogen storage disease due to muscle beta-enolase deficiency?
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.
Other condition names
- GSD due to muscle beta-enolase deficiency
- GSDXIII
- Glycogenosis due to muscle beta-enolase deficiency
- Glycogenosis type 13
- Muscle enolase deficiency
- Muscular enolase deficiency
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Adult
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.