Catalog

Glycogen storage disease due to glycogen phosphorylase kinase deficiency

No MMS code

Link to WHO Definition

Glycogen storage disease due to glycogen phosphorylase kinase deficiency – http://id.who.int/icd/entity/1544583473

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 (see these terms).