CBC Pompe Disease

Question 1

What is Pompe disease?

Answer 1

a rare, often fatal inherited disease that disables the heart and muscle.

Excessive amounts of glycogen accumulate everywhere in the body, with heart and skeletal cells being the most affected

The severity of the disease and the age of onset is related to the degree of the enzyme deficiency

Question 2

What causes Pompe disease?

Answer 2

mutations in a gene that makes an enzyme called alpha-glucosidase (GAA)

Question 3

What is the role of GAA in the body?

Answer 3

breaks down glycogen for energy

Question 4

T or F. Early onset Pompe disease is the result of complete or near complete deficiency of GAA

Answer 4

T. Late onset Pompe is a result of partial deficiency of GAA

Question 5

What are the symptoms of early onset Pompe disease?

Answer 5

poor weight gain, enlarged tongue, muscle weakness, respiratory difficulties

Most babies with Pompe disease die from cardiac or respiratory complications before their first birthday

The infantile form usually comes to medical attention within the first few months of life. The usual presenting features are cardiomegaly (92%), hypotonia (88%), cardiomyopathy (88%), respiratory distress (78%), muscle weakness (63%), feeding difficulties (57%) and failure to thrive (50%).

Question 6

How can Pompe disease be diagnosed?

Answer 6

screening for the common genetic mutations (note that there are several hundred) and by measuring GAA levels in the blood (this test is 100% accurate)

Question 7

What is the current treatment for early onset Pompe disease?

Answer 7

a drug called Myozyme ( alglucosidase alfa)

I.e. a type of enzyme-replacement therapy

Question 8

What is the current treatment for late onset Pompe disease?

Answer 8

Lumizyme ( another alglucosidase alfa drug)

I.e. a type of enzyme-replacement therapy

Question 9

What are the prognosis’s for early and late onset Pompe?

Answer 9

Without enzyme replacement therapy, the hearts of babies with infantile onset Pompe disease progressively thicken and enlarge. These babies die before the age of one year from either cardiorespiratory failure or respiratory infection. For individuals with late onset Pompe disease, the prognosis is dependent upon the age of onset. In general, the later the age of onset, the slower the progression of the disease. Ultimately, the prognosis is dependent upon the extent of respiratory muscle involvement.