Glycogen-storage disease type II, also known as Pompe disease, is an inherited disorder caused by mutations in the GAA gene. This gene provides instructions for making an enzyme called acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down a complex sugar molecule called glycogen, which is stored in the body's cells and used for energy. When the GAA gene is mutated, the body is unable to produce enough of the enzyme, leading to a buildup of glycogen in the cells. This buildup can cause a variety of symptoms, including muscle weakness, heart problems, and breathing difficulties.

The symptoms of Genetics of Glycogen-Storage Disease Type II (Pompe Disease) vary depending on the age of the patient. In infants, the most common symptoms include muscle weakness, enlarged heart, enlarged liver, poor feeding, and respiratory problems. In older children and adults, the most common symptoms include muscle weakness, fatigue, difficulty breathing, and enlarged heart. Other symptoms may include enlarged tongue, joint contractures, and difficulty swallowing.

The cause of glycogen-storage disease type II (Pompe disease) is a mutation in the GAA gene, which provides instructions for making an enzyme called acid alpha-glucosidase. This enzyme is responsible for breaking down a complex sugar molecule called glycogen. When the GAA gene is mutated, the body is unable to produce enough of the enzyme, leading to a buildup of glycogen in the cells. This buildup can cause a variety of symptoms, including muscle weakness, heart problems, and breathing difficulties.

1. Enzyme Replacement Therapy (ERT): ERT is the most common treatment for Pompe disease. It involves injecting a man-made form of the enzyme alpha-glucosidase into the bloodstream. This enzyme helps break down glycogen in the body, reducing the amount of glycogen that builds up in the cells.

2. Substrate Reduction Therapy (SRT): SRT is a newer treatment for Pompe disease. It involves taking a medication that helps reduce the amount of glycogen that is produced in the body.

3. Dietary Changes: Dietary changes can help reduce the amount of glycogen that is produced in the body. This includes avoiding foods that are high in carbohydrates and sugar, and eating more protein and healthy fats.

4. Exercise: Exercise can help reduce the amount of glycogen that is produced in the body.

1. Autosomal recessive inheritance: Pompe disease is inherited in an autosomal recessive pattern, which means that 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.

2. Family history: A family history of Pompe disease increases the risk of developing the condition.

3. Ethnicity: Pompe disease is more common in certain ethnic groups, including Ashkenazi Jews, Dutch, and French Canadians.

4. Age: Pompe disease can affect people of any age, but it is most common in infants and young children.

Yes, there is a cure for Genetics of Glycogen-Storage Disease Type II (Pompe Disease). The treatment is enzyme replacement therapy (ERT) with alglucosidase alfa, which is a recombinant form of the enzyme acid alpha-glucosidase. This enzyme is given intravenously every two weeks and helps to break down the glycogen in the body. Other medications may also be prescribed to help manage the symptoms of the disease.