Pompe Disease By: Casey Burton

1. What is the disease? Pompe disease is a rare condition that damages muscle cells (mainly the musculoskeletal system) and causes respiratory problems. These symptoms worsen over time. It also causes cardiovascular problems for infants with the disease which is not seen in patients in their adolescence or adult years. The disease is categorized by when the symptoms of the disease begin to show such as: classic infantile-onset, non-classic infantile-onset, and late-onset.

2. What is the gene that the mutation occurs in to cause this disease? The gene in which the mutation occurs is called acid alpha-glucosidase or GAA.

3. What is produced by the defective gene GAA? The "instructions" for the enzyme affected (acid-maltase) are given by the GAA gene. When it is mutated, the enzyme found in lysosomes, will no longer be present or they will present in a limited amount. Pompe disease is caused by this buildup of glycogen that results from the lack of the enzyme.

Enzyme Replacement Therapy (ERT). How to manage Pompe disease.

4. How and when was the disease first documented? Pompe disease was first documented and described by Johannes C. Pompe, a Dutch doctor, who found the disease in an infant in 1932.

5. What is the incidence rate of the disease in the US? In the world? Pompe disease is found in about 1 in 40,000 people in the US and only 5,000 to 10,000 people worldwide.

6. Are any specific populations of people affected more than others? Many conducted studies show that the incidence of Pompe disease varies among ethnic groups, gender, and age. Though some rates are higher than others. In infants, Pompe disease is seen more frequently in African Americans along with people from southern China and Taiwan . In adults, you can find a higher frequency in the Netherlands.

7. What are the symptoms? The symptoms of Pompe disease include musculoskeletal issues along with respiratory problems. This includes weakness in the arms and legs along difficulty breathing. In infants, an enlarged heart is another very common symptom of the disease. These symptoms will worsen and in some cases it can be fatal.

Life Expectancy of People with Pompe Disease

8. How is the disease diagnosed? Pompe disease is diagnosed with a blood test to measure the activity of the GAA enzyme in the blood.

9. How is the disease treated? Pompe disease can not be cured but many different types of treatment exist for the disease. The most recent treatment is enzyme replacement therapy or ERT. It replaces the deficient GAA enzymes in the body.

10. What is the prognosis for a patient diagnosed with the disease? A patient diagnosed with Pompe disease in infancy, depending on the rate of progression, can die by age 1 or later in their years. Though they often have a premature death. In an older patient they will gradually become worse, but the rate of progression varies making the prognosis unreliable and unpredictable.

11. What is the genetic pattern of inheritance (autosomal or sex-linked, dominant or recessive)? Pompe disease is an autosomal recessive disorder.

How to get an autosomal recessive disease.

12. What current research is being conducted on the disease or its treatments? Many different research facilities such as Duke Pompe Disease Clinical and Research Program are working with patients and physicians worldwide to treat the disease. The chosen method of treatment is ERT. The drug alglucosidase alfa in the form of Lumizyme treats children and adults with late-onset Pompe disease and it was approved by the FDA in 2010.

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“Diagnostic and Confirmatory Testing.” Pompe Healthcare Professional, Genzyme, Jan. 2016, www.pompe-disease.eu. Accessed 5 Feb. 2017.

“GAA Glucosidase Alpha, Acid [ Homo Sapiens (Human) ].” Standard Protein BLAST, US National Library of Medicine, 19 Jan. 2017, blast.ncbi.nlm.nih.gov. Accessed 1 Feb. 2017.

“Getting Diagnosed.” Pompe Community, Genzyme, 2017, www.pompe.com. Accessed 5 Feb. 2017.

Grbic, Jovana J. “Review: Extraordinary Measures.” ScriptPhD, Jovana J. Grbic, 21 Jan. 2010, scriptphd.com. Accessed 5 Feb. 2017.

---. “Review: Extraordinary Measures.” ScriptPhD, Jovana J. Grbic, 21 Jan. 2010, scriptphd.com. Accessed 5 Feb. 2017.

“Inheriting Pompe Disease.” Pompe Community, Genzyme, 2017, www.pompe.com. Accessed 5 Feb. 2017.

“Pompe Disease.” Genetics Home Reference, National Institutes of Health, 31 Jan. 2017, ghr.nlm.nih.gov. Accessed 3 Feb. 2017.

“Pompe Disease Clinical and Research Program.” Duke Children’s, Duke University Health System, 2013, www.dukechildrens.org. Accessed 5 Feb. 2017.

“Signs & Symptoms.” Pompe Community, Genzyme, 2017, www.pompe.com. Accessed 5 Feb. 2017.

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