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GSD9

Your GSD9 coordinator is
Dan Machin

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GSD9 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 GSD9 are from X-linked inheritance and thus affect males only. However, GSD9 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.

 

Other names

Glycogen phosphorylase b kinase deficiency

Affected Liver and muscle forms
Inheritance

Autosomal recessive, but muscle type X-linked

Incidence Approx. 1 in 1,000,000
UK diagnosed Less than 10
Symptoms

Liver enlargement(reduces with age), delayed growth

Secondary symptoms

GSD9d muscle type, pain and weakness, raised CK

Treatment

No specific treatment.

Outlook

GSD9d good with avoidance of strenuous activity

How can we help?

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Diagnosis & Management

Diagnosis, Parents’ guide, More content is planned.

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Information & Support

Coordinator, Links

 

Activity & Exercise

More content is planned.

Research & Development

More content is planned.

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