Glycogen storage disease due to muscle glycogen phosphorylase deficiency
ORPHA:368· ICD-10 E74.0
Definition
A form of glycogen storage disease (GSD) characterized by exercise intolerance and rhabdomyolysis episodes, due to a deficiency of the muscle isoform of glycogen phosphorylase.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood