Glycogen storage disease IX
Glycogen storage disease IX
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.
Also known as glycogen storage disease 9, glycogen storage disease IX, glycogen storage disease type 9, glycogen storage disease type IX, glycogenosis due to phosphorylase kinase deficiency, glycogenosis type 9, glycogenosis type IX, GSD IX, GSD type 9, GSD type IX, GSD9, GSDIX, phosphorylase kinase deficiency — per MONDO