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Also known as "GAA" (“glucosidase, alpha; acid.”)
Incidence rate:
1 in every 40,000 births
Caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). This gene is located on chromosome 17. The body uses GAA to break down glycogen, a stored form of sugar used for energy.
In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of glycogen can accumulate everywhere in the body, but skeletal and heart cells are the most seriously affected.
Autosomal Recessive
Heart Tests are most important for infants with Pompe disease, who almost always have heart problems. Tests may include:
The most seriously ill infants require 24-hour monitoring of their heart conditions.
Muscle weakness can be observed in an infants’ movements and the difficulty they experience doing so. Doctors can also check muscle function quantitatively with an electromyography (EMG) test, which measures a muscle’s electrical activity.
Breathing Tests:
A variety of tests can be used to measure lung capacity, which can indicate weakened breathing muscles.
Blood tests can identify abnormal levels of certain chemicals and substances. The most revealing one is the enzyme creatine kinase (CK), which is released into the body at unusually high levels when muscles are damaged. High CK levels are seen in most patients with Pompe disease, especially infants.
The final way to confirm Pompe disease is by measuring the activity of the GAA enzyme in the blood, which is always lower than normal in people with Pompe disease.
Unfortunately, most infants
with Pompe disease die within the
first year because of progressive
left ventricular outflow obstruction
(Heart can no longer pump blood
properly.)
Those who do live past the first year of life are challenged with motor delays and/or slowly progressive muscle weakness, typically resulting in death from ventilatory failure in early childhood.
Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care. The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme.
As a result, an enzyme replacement therapy has been developed that has shown in clinical trials to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation. A drug called alglucosidase alfa (Myozyme©), has received FDA approval for the treatment of infants and children with Pompe disease.
Leslie, N (August 31, 2007), Glycogen Storage Disease Type II (Pompe Disease), US National Library of Medicine. (3/15/11). http://www.ncbi.nlm.nih.gov/books/NBK1261/
n.a. (May 28, 2010)NINDS Pompe Disease Information Page.National Institute of Neurological Disorders and Stroke. (3/21/11). http://www.ninds.nih.gov/disorders/pompe/pompe.htm#Is_there_any_treatment
n.a. (n.d.) Tests Used During Diagnosis, Pompe community. (3/18/11). http://www.pompe.com/en/patients/getting-diagnosed/tests.aspx
Pompe Disease
By Dave Drafts