Glycogen storage disease due to muscle phosphorylase kinase deficiency
What is Glycogen storage disease due to muscle phosphorylase kinase deficiency?
Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.
Other condition names
- GSD due to muscle phosphorylase kinase deficiency
- GSD type 9D
- GSD type 9E
- GSD type IXd
- GSD type IXe
- Glycogen storage disease type 9D
- Glycogen storage disease type 9E
- Glycogen storage disease type IXd
- Glycogen storage disease type IXe
- Glycogenosis due to muscle phosphorylase kinase deficiency
- Glycogenosis type 9D
- Glycogenosis type 9E
- Glycogenosis type IXd
- Glycogenosis type IXe
Inheritance type
Autosomal recessive, X-linked recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Adolescent
- Adult
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.