Glycogen storage disease due to muscle phosphorylase kinase deficiency
ORPHA:715· ICD-10 E74.0
Definition
Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Adolescent, Adult