Pompe+Disease

__**Pompe Disease **__


 * Root Cause: **

A buildup of glycogen, a complex sugar, within the cells of the body. This buildup in organs and tissues of the body will cause a reduction of movement and ability. This is especially bad within the heart, skeletal and muscles of the body. The disease is obtained through inheritance by autosomal recessive pattern1. Figure 1 shows the effects on the human body.


 * Afflicted Organs/Processes/Cells: **

Pompe disease is a mutation of the acid alpha-glucosidase (GAA) gene. GAA is an important enzyme that is used by the body to break down glycogen and converts it into glucose. In pompe disease GAA is reduced or completely eliminated causing a buildup of sugars to a toxic level within lysosomes, as shown in figure 2. This initially causes damage and a reduction of strength in muscles. This affects everyday life from sleeping to work and daily activities3.

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 * Figure 1: Pompe Disease with explanation. **




 * Figure 2: Part A shows the normal process in the human body, B shows have Pompe affect GAA within the body to eliminate it producing excess lysosomes4. **


 * Historical Background: **

The pompe disease was first described in 1932 by J.C. Pompe, a Dutch pathologist. He observed the death of a seven month old infant. He first called it “cardiomegalia glycogenica diffusa”, which was later changed to Pompe disease2. The disease is also classified as Lysosomal Storage Disorder (LSD). This disease affects about 1 in 40,000 people in the USA.


 * Common Symptom: **

Pompe disease has a high fatality rate with infants. This is because the absence of the enzyme causes the hearts to enlarge and become thickened leading to a death before the age of one in most cases. Common symptoms of this disease are classified into two phenotypes, the infantile and late onset forms. They both encompass the same problems with more included in the later onset. Some similarities include hypotonia, macroglossia, hepatomegaly, muscle weakness, difficulty eating or swallowing, respiratory infections and motor skill problems.


 * Common Treatments: **

There are different treatments for different symptoms. Respiratory treatments include intermittent positive pressure breathing (IPPB) to help expand the lungs. Pompe disease can make it very hard for a person to breath, which is a huge problem. Patients who are extremely weak should have a diet consisting of high protein, rich in amino acids and low in carbohydrates. The use of physical therapy can help to gain strength back into weak muscles to increase the range of motion.


 * Current Research: **

Current research in continually being done to try and find ways to counter Pompe disease. Enzyme replacement therapy, with alglucosidase alfa, administered every two weeks, especially at younger ages can prove to be beneficial3. This has shown to have different affect based on the stage of the patient.


 * <span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">References: **

<span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">1) Bernstein, Donna L., Bialer, Martin G., Mehta, Lakshmi., Desnick, Robert J. (2010). Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients, Molecular Genetics and Metabolism 101(2–3): 130-133

<span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">2) Chien, Yin-Hsiu., Hwu, Wuh-Liang. (2007). A Review of Treatment of Pompe Disease in Infants. Dove Medical Press Limited 1(3):195-201. Website: []

<span style="font-family: 'Times New Roman',Times,serif; font-size: 140%;">3) Mellies, Uwe., Lofaso, Frédéric. (2009). Pompe disease: A neuromuscular disease with respiratory muscle involvement. Respiratory Medicine 103(4): 477-48