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Hers Disease (GSD6)

Your GSD6 coordinator is Caroline Holdstock

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In GSD6 the defective enzyme prevents glucose from being properly extracted and so glycogen continues to build up in the body. This accounts for the enlarged liver and swollen abdomen and produces symptoms of low blood sugar. Periods of low blood sugar in GSD6 are milder than other types of GSD as those with GSD6 can also make glucose from protein.

Initial symptoms can vary, common childhood symptoms are: a swollen abdomen due to an enlarged liver, a history of poor growth or short stature, frequent feeding – always hungry, pisodes of low blood sugar (hypoglycaemia) on fasting, and excessive tiredness following activity.

However, with good dietary management, people wih GSD6 can lead a normal life, can have unaffected children and should live into old age.

Potential complications in later life can include cirrhosis (scarring) and/or adenomas on the liver. Pregnancy should be closely monitored. Those affected by GSD6 may find their symptoms lessen as they become adults. We generally need less energy as we get older because we are not growing.

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Other names

Liver phosphorylase deficiency

Affected Liver
Inheritance Autosomal recessive
Incidence

Unknown, but very rare

UK diagnosed

About 50.

Symptoms

Swollen abdomen, poor growth, frequent feeding, low blood sugar, excessive tiredness after activity.

Secondary symptoms

Cirrhosis and/or adenomas of the liver.

Treatment

Frequent small meals and uncooked cornstarch to normalise blood glucose.

Outlook

Improves with age; most adults do not have any related health problems.

How can we help?

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Diagnosis & Follow up

Symptoms, Diagnosis, Cause

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Information & Support

Coordinator, Support

Activity & Exercise

More content is planned.

Research & Development

More content is planned.

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