Glycogen storage disease due to phosphorylase kinase deficiency
ORPHA:370
Definition
Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- All ages