How does Pompe disease affect the body?
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).
What is the prognosis for Pompe disease?
Outlook / Prognosis Patients with classic infantile-onset type rarely live past 1 year of age. Patients with non-classic infantile–onset type may live to early childhood. Children with late-onset types of Pompe disease can live longer as the disease progresses more slowly.
What causes late-onset Pompe disease?
Causes of late-onset Pompe disease This is because of a defect in the GAA gene that causes low levels of the acid alpha-glucosidase enzyme to be produced, an enzyme that is crucial in breaking glycogen down into glucose.
What builds 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 organs and tissues, especially muscles, impairs their ability to function normally.
How does Pompe disease affect the human body?
In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.
How does the lysosome function in Pompe disease?
Lysosomes are known to function as cellular clearinghouses; they ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles. In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme.
How is the GAA gene affected in Pompe disease?
In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 300 diffe…
What causes muscle weakness and wasting in Pompe disease?
Acid alpha-glucosidase (GAA) is one of these enzymes and solely responsible for the shortage or dysfunction of the GAA enzyme causes glycogen to accumulate within the lysosomes leading sequentially to cellular malfunction, cellular damage, tissue damage, and ultimately organ dysfunction. In Pompe, that is manifested as muscle weakness and wasting.
What kind of muscle weakness does Pompe disease cause?
Pompe disease causes muscle weakness and trouble breathing. It mostly affects the liver, heart, and muscles. You might hear Pompe disease called by other names such as GAA deficiency or type II glycogen storage disease (GSD).
Where does the glycogen accumulate in Pompe disease?
General Discussion. This causes the glycogen to accumulate in all kinds of tissues, but primarily in skeletal muscle, smooth muscle and cardiac muscle, where it causes damage to tissue structure and function. Pompe disease is inherited as an autosomal recessive genetic trait.
How are lysosomal storage disorders related to Pompe disease?
Pompe disease belongs to a group of diseases known as the ‘lysosomal storage disorders’ (LSDs). Lysosomes are small compartments inside the cells wherein all kind of substances are re-cycled. The substances are degraded by the action of digestive enzymes and more than 50 different LSDs are presently known.
How many people are affected by Pompe disease?
Since this is a genetic condition, the people who get this disease inherit it from a parent. It is common, however, that neither parent shows any symptoms. The disease is rare. In the United States, only 1 person in 40,000 is affected by Pompe disease. It can affect both males and females of all ethnic groups.