Final answer:
Pompe disease (GSD II) is a rare genetic disorder that affects the body's ability to break down glycogen. It can cause muscle weakness, respiratory problems, enlarged heart, and liver dysfunction. Treatment involves enzyme replacement therapy.
Step-by-step explanation:
Pompe disease (GSD II), also known as glycogen storage disease type II, is a rare genetic disorder that affects the body's ability to break down a complex sugar called glycogen. This leads to the accumulation of glycogen in various tissues, particularly in muscles and organs such as the heart and liver. The disease is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA) which is responsible for breaking down glycogen into glucose.
The accumulation of glycogen in Pompe disease can cause a variety of symptoms including muscle weakness, respiratory problems, enlarged heart, and liver dysfunction. The severity of the disease can vary, with some individuals experiencing more severe symptoms from birth while others may develop symptoms later in life.
The treatment for Pompe disease involves enzyme replacement therapy, which provides the missing enzyme GAA to help break down glycogen. This therapy can help manage symptoms and slow down the progression of the disease, but it does not cure the condition. Additional supportive care may also be necessary to address specific symptoms and complications.