/glycogen storage disease IXd

glycogen storage disease IXd

Rare Disease

MONDO:0010362

Also Known As

GSD IXdGSD due to muscle phosphorylase kinase deficiencyGSD type 9DGSD type IXdGSD9DPHKA1 glycogen storage diseasePHKA1-related glycogen storage disease type IXglycogen storage disease caused by mutation in PHKA1glycogen storage disease due to muscle phosphorylase kinase deficiencyglycogen storage disease type 9Dglycogen storage disease type IXdglycogenosis due to muscle phosphorylase kinase deficiencyglycogenosis type 9Dglycogenosis type IXdmuscle glycogenosis, X-linked recessivemuscle phosphorylase kinase deficiencyGSD Vbglycogen storage disease, type IXdmuscle glycogenosis, X-linkedmuscular phosphorylase kinase deficiency

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.