Glycogen storage disease due to glycogen phosphorylase kinase deficiency (Q84792): Difference between revisions

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Latest revision as of 10:08, 15 August 2026

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).

Language	Label	Description	Also known as
default for all languages	ID_1544583473
English	Glycogen storage disease due to glycogen phosphorylase kinase deficiency	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).