Glycogen storage disease IXd
Glycogen storage disease IXd
Definition
A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.
Also known as glycogen storage disease caused by mutation in PHKA1, glycogen storage disease due to muscle phosphorylase kinase deficiency, glycogen storage disease type 9D, glycogen storage disease type IXd, glycogenosis due to muscle phosphorylase kinase deficiency, glycogenosis type 9D, glycogenosis type IXd, GSD due to muscle phosphorylase kinase deficiency, GSD IXd, GSD type 9D, GSD type IXd, GSD9D, muscle glycogenosis, X-linked recessive, muscle phosphorylase kinase deficiency, PHKA1 glycogen storage disease, PHKA1-related glycogen storage disease type IX — per MONDO