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Pompe Disease (GSD2)

Your GSD2 coordinator is
Jane Lewthwaite

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Pompe disease is a disorder of the metabolism first described in 1932 by Dr J C Pompe. In this case it means that there is a problem with one of the stages in the normal processing of food to make energy.

It is a rare neuromuscular, genetic condition that occurs in babies, children and adults who inherit a defective gene from each of their parents. Though the genetic defect that causes GSD2 is present at birth, symptoms may appear at any time from birth to adulthood.

Pompe is now sometimes referred to as GSD2a, because Danon disease is sometimes known as GSD2b even though it involves a different gene. Read our information on Danon disease.

Pompe disease has two forms so it is important to check which one you are learning or reading about. The two forms are; infantile-onset Pompe disease or late-onset Pompe disease. Both forms are progressive, although the rate varies between individuals.

Lysosomes are found in almost all cells in the body. An essential enzyme for the metabolism of glycogen called acid alpha-glucosidase (GAA) is deficient or dysfunctional within the lysosome. Without the GAA the lysosome cannot break down glycogen. Glycogen builds up, the lysosome expands, damaging muscle and liver cells.

Pompe disease is the only glycogen storage disease that is also a lysosomal storage disease.

Other names

Acid maltase deficiency. Infantile-onset, non-classic infantile-onset, and late-onset types

Affected Neuromuscular
Inheritance Autosomal recessive
Incidence Approx. 1 in 40,000
UK diagnosed About 200  (UK diagnosed explained)
Symptoms

Progressive muscle weakness, poor muscle tone, an enlarged liver.

Secondary symptoms

Heart may be abnormally large, breathing problems can lead to respiratory failure.

Treatment

Enzyme replacement therapy (ERT).

Outlook

A degenerative condition, but outlook improved with ERT which has been available for ten years.

How can we help?

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Diagnosis & Follow up

Introduction, Getting diagnosed, Newly diagnosed, Treatment options

Infant onset  Late onset

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Information & Support

Support, Coordinator, Publications, Social media, Links

 

Pompe Support Team

Support from experienced Pompe people.

Research & Development

Research agenda, Industry partners, AGSD-UK research, Joining a trial

Read some personal stories

Do you have an interesting personal story to tell? Just message us or visit the Notes for contributors.