What role does an enzyme play in Pompe disease?
Pompe disease happens because of a mutation (a change) in a gene that helps make an enzyme called alpha-glucosidase. This enzyme breaks down a type of glucose called glycogen . When the enzyme is not made properly, glycogen builds up in the body's cells.
What is enzyme replacement therapy for Pompe?
Enzyme replacement therapy (ERT) is the only effective form of treatment for Pompe disease. It consists of injecting alpha-glucosidase directly into your bloodstream. As a result, your body breaks down glycogen stores and prevents toxic buildups in your cells.
What is GAA enzyme?
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 is an effective way to treat Pompe's disease?
Enzyme replacement therapy (ERT) is an approved treatment for all patients with Pompe disease. It involves the intravenous administration of recombinant human acid alpha-glucosidase (rhGAA).
How is enzyme replacement therapy done?
Enzyme Replacement Therapy: The Basics The most common method of ERT is through IV infusions, in which the replacement enzyme is administered directly into the bloodstream through a controlled drip of fluids.
What is Naglazyme used for?
Naglazyme is used to treat patients who have mucopolysaccharidosis VI (MPS VI or Maroteaux-Lamy syndrome). This disease is caused by the lack of an enzyme called N-acetylgalactosamine 4-sulfatase, which is needed to break down substances in the body called glycosaminoglycans (GAGs).
What type of mutation will GAA lead to?
Pompe disease (PD) is an autosomal recessive lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes.
Is GAA a protein?
GAA (Alpha Glucosidase) is a Protein Coding gene. Diseases associated with GAA include Glycogen Storage Disease Ii and Glycogen Storage Disease.
How does the change in the lysosome structure and function result in the symptoms of 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.
Has Pompe disease been cured?
Medical Care. Unfortunately, no cure exists. However, Pompe disease has benefited from the introduction of enzyme replacement therapy (ERT), which, although expensive, is a major therapeutic advance.
What happens in 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.
How does Pompe disease affect lysosomes?
Pompe disease is a lysosomal storage disorder in which acid alpha-glucosidase (GAA) is deficient or absent. Deficiency of this lysosomal enzyme results in progressive expansion of glycogen-filled lysosomes in multiple tissues, with cardiac and skeletal muscle being the most severely affected.