/glycogen storage disease IX

glycogen storage disease IX

Rare Disease

MONDO:0700291

Also Known As

GSD IXGSD type 9GSD type IXGSD9GSDIXglycogen storage disease 9glycogen storage disease IXglycogen storage disease type 9glycogen storage disease type IXglycogenosis due to phosphorylase kinase deficiencyglycogenosis type 9glycogenosis type IXphosphorylase kinase deficiency

Definition

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.