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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.

GSD9 has four sub-types: a, b, c and d. For details of the differences, we suggest you read the following:

Go to the GSD9 section of the NORD Rare Disease Database.

Other names

Glycogen phosphorylase b kinase deficiency

Affected Liver and muscle forms
Inheritance

X-linked and autosomal recessive patterns, but the muscle type (9d) is X-linked only

Incidence Approx. 1 in 1,000,000
UK diagnosed About 150  (UK diagnosed explained)
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?

t

Diagnosis & Follow up

Diagnosis, Parents’ guide, More content is planned.

i

Information & Support

Coordinator, Links

 

Activity & Exercise

More content is planned.

Research & Development

More content is planned.

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