Glycogen Storage Disease Type IX

Also known as liver glycogen phosphorylase kinase deficiency.

GSD IX is one of the least severe forms of GSD. In most individuals apart from liver enlargement there are few other problems. There is usually no tendency to low blood sugar, the liver becomes smaller with age and children grow normally.

Most cases of GSD Type IX are from X-linked inheritance and thus affect males only. However, GSD Type IX can be inherited in an autosomal recessive manner, in which case both male and female children of two carriers have a 25% chance of having the disease.

• One family's experience with Type IX
• Comprehensive paper on Type IX from NCIB
• OMIM entry on GSD Type IX (in-depth medical overview)
• Type IX Workshop Reports from the annual conference
• Type IX newsletter articles index