What type of mutation causes Pompe disease?
Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes , which are structures that serve as recycling centers within cells.
What does acid alpha-glucosidase do?
Acid alpha-glucosidase is the enzyme responsible for degradation of glycogen polymers to glucose in the acidic milieu of the lysosomes. Cardiac and skeletal muscles are the two major tissues affected by the accumulation of glycogen within the lysosomes.
What does GAA do in the body?
GAA is an enzyme essential in breaking down glycogen (a sugar) into glucose. When glycogen is not broken down properly, it builds up in the body and can cause health problems. There are several types of Pompe disease: classic infantile-onset, non-classic infantile-onset, and late- onset.
What parts of the body are most affected by Pompe disease?
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).
What gene or chromosome is affected by Pompe disease?
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout GAA gene have been reported.
How does a person get 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).
Where is the GAA gene expressed?
N-glycans of recombinant human GAA were expressed in the milk of transgenic rabbits. mutations in the alpha glucosidase gene is associated with infantile onset glycogen storage disease type II.
How is Pompe disease diagnosed?
A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample. Once Pompe disease is diagnosed, testing of all family members and a consultation with a professional geneticist are recommended.
What organelle is damaged by the defective gene that causes Pompe?
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.
Is Pompe fatal?
What is Anderson’s disease?
Andersen disease is also known as glycogen storage disease (GSD) type IV. It is caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues.