What part of the cell does Pompe disease affect?

Pompe disease happens when your body can’t make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs. Pompe disease causes muscle weakness and trouble breathing. It mostly affects the liver, heart, and muscles.

Click to read further detail. Consequently, what organelle does Pompe disease affect in the cell?

The defect results in a build-up of glycogen in the lysosome, a saclike storage organelle in the cell that acts as a waste-disposal system, leading to muscle weakness, organ damage including the brain, and possible death. (The infantile variant of the disease is fatal without treatment, usually within two years).

Also, what are the symptoms of Pompe?

Beside this, how does Pompe disease affect the cell?

Why is it called Pompe disease?

Pompe disease is also known as Acid Maltase Deficiency or Glycogen Storage Disease type II. This condition is 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.

How do you test for Pompe disease?

When a diagnosis of Pompe disease is based on a leukocyte or blood spot assay, it must be confirmed through molecular genetic testing (DNA analysis) or by another enzyme assay, preferably using cultured skin fibroblasts obtained by a skin biopsy.

How does Pompe disease affect other organelles?

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 organs and tissues, especially muscles, impairs their ability to function normally.

What research is being done into Pompe disease?

Researchers at Duke Health are developing a gene therapy approach for Pompe disease. This treatment uses a virus to deliver a healthy copy of the gene that is mutated in Pompe, the GAA gene, into the patients’ liver cells.

How do you get Pompe disease?

Pompe disease happens when your body can’t make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs. Pompe disease causes muscle weakness and trouble breathing.

Is Pompe disease curable?

At this time there is no cure for Pompe disease. There is one FDA approved treatment called Myozyme which is an enzyme replacement therapy produced by Genzyme Therapeutics.

How common is Pompe disease?

Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).

Can Pompe disease be prevented?

How can Pompe disease be prevented? As this is a genetic disease it cannot currently be prevented. Supportive treatment and care are available.

Is Pompe disease a type of muscular dystrophy?

In infants and children, Pompe disease may be confused with other types of muscular dystrophy. In Pompe disease, there will be reduced or absent activity of this enzyme. Children afflicted with infantile-onset typically have lower than 1% of normal GAA enzyme activity levels.

What is Pompe disorder?

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 organs and tissues, especially muscles, impairs their ability to function normally. The non-classic form of infantile-onset Pompe disease usually appears by age 1.

What type of mutation is Pompe disease?

Pompe disease is caused by mutations in the GAA gene located on chromosome 17. This gene normally provides instructions to produce an enzyme called alpha-glucosidase (also called acid maltase). The severity of the disease and the age of onset are related to the degree of enzyme deficiency.

What is Gaucher disease?

Gaucher’s disease. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside.

How are lysosomes affected by Pompe disease?

Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, which allows this sugar to build up to toxic levels in lysosomes. This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.

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