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Pompe disease
 
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Pompe disease

Reviewed October 2006

What is Pompe disease?

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.

One type of Pompe disease, known as infantile onset, begins within a few months of birth. Infants with this disorder typically exhibit symptoms such as muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver and heart, and heart failure. Affected infants may also have poor feeding, failure to gain weight and grow at the expected rate (failure to thrive), and breathing problems. Most infants with Pompe disease cannot hold up their heads or move normally. As the disease progresses, swallowing may become difficult and the tongue may become abnormally enlarged (macroglossia). Most children with this form of Pompe disease do not survive beyond the age of 2.

Other forms of Pompe disease are known as late onset and may not show signs and symptoms until childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset form of this disorder. Most individuals experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing.

How common is Pompe disease?

Pompe disease affects about 1 in 40,000 people.

What genes are related to Pompe disease?

Mutations in the GAA gene cause Pompe disease.

The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (commonly called acid maltase). This enzyme is active in lysosomes, which are structures that serve as the cell's recycling center. The enzyme normally breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells. Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen, allowing it to build up in the body's cells. Over time, this buildup damages cells throughout the body, particularly muscle cells.

Read more about the GAA gene.

How do people inherit Pompe disease?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about treatment for Pompe disease?

These resources address the management of Pompe disease and may include treatment providers.

You might also find information on treatment of Pompe disease in Educational resources and Patient support.

Where can I find additional information about Pompe disease?

You may find the following resources about Pompe disease helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Pompe disease?

  • Acid Maltase Deficiency Disease
  • Aglucosidase alfa
  • alpha-1,4-Glucosidase deficiency
  • cardiomegalia glycogenica diffusa
  • Deficiency of alpha-glucosidase
  • Deficiency of lysosomal alpha-glucosidase
  • GAA deficiency
  • Generalized Glycogenosis, Cardiac Form
  • Glycogenosis Type II
  • Glycogen Storage Disease Type II
  • GSD II
  • Lysosomal alpha-1,4-glucosidase deficiency
  • Pompe's Disease
  • Pompes Disease

What if I still have specific questions about Pompe disease?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding Pompe disease?

acids ; autosomal ; autosomal recessive ; cardiac ; cell ; deficiency ; enzyme ; failure to thrive ; gene ; glucose ; glycogen ; heart failure ; hypotonia ; lysosome ; macroglossia ; muscle tone ; mutation ; recessive ; sign ; symptom ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (9 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: October 2006
Published: January 23, 2009