Glycogen storage disease due to muscle beta-enolase deficiency
ORPHA:99849· ICD-10 E74.0
Definition
A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adult