Type IXD Glycogen Storage Disease

mutation in PHKA1

Also Known As:

Glycogen Storage Disease, Type IXD; GSD IXD; GSD9D; Muscle Glycogenosis, X-Linked; Muscle Phosphorylase Kinase Deficiency

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

1.	Glycogen Storage Disease Type V (McArdle's Disease)
2.	Glycogen Storage Disease (Glycogenosis)

Drugs and Important Biological Agents (IBA) related to Type IXD Glycogen Storage Disease:

1.	Phosphorylase Kinase (Phosphorylase Kinase, Glycogen)IBA 05/01/1996 - "Mutations have been found in the muscle phosphorylase gene in patients with muscle phosphorylase deficiency, in the gene encoding the liver alpha subunit of phosphorylase kinase in patients with X-linked liver glycogenosis, and in the gene for the muscle alpha subunit of phosphorylase kinase in a patient with muscle phosphorylase kinase deficiency. "
2.	Phosphorylases (Glucan Phosphorylase)IBA 05/01/1996 - "Mutations have been found in the muscle phosphorylase gene in patients with muscle phosphorylase deficiency, in the gene encoding the liver alpha subunit of phosphorylase kinase in patients with X-linked liver glycogenosis, and in the gene for the muscle alpha subunit of phosphorylase kinase in a patient with muscle phosphorylase kinase deficiency. "