Pompe+Disease-Fact+Sheet+(Alison+Taylor)



Pompe Disease Fact Sheet Genetic abnormality in the gene that produces acid alpha glucosidase, which breaks down glucose.
 * Cause**

Initially affects the lysosomes in cells, but it causes the lysosomes to burst, which affects cells around it, mainly muscle and heart cells.
 * Affected Cells**

Discovered by Joannes Cassianus Pompe in 1932 after performing an autopsy on a 7-month-old girl. He examined her heart to find it enlarged and abnormal tissue.
 * History**

Common symptoms include muscle weakness and an enlarged heart
 * Symptoms**

Treatments are usually symptomatic and include respirators, physical therapy, and wheelchairs. There is an enzymatic treatment, Myozyme, which is an enzyme replacement therapy and is essentially injecting the patient with the enzyme acid alpha glucosidase.
 * Treatment**

Current research is being performed to highlight the variability experienced by siblings suffering from the same disease.[1] There is also more research being performed on how to diagnose the disease through enzyme detection in the blood. [2]
 * Current Research**

1. Papadopolous, C., Papadimas, G. K., Michelakakis, H., Kararizou, E., & Manta, P. (2014). Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease. //Molecular Genetics and Metabolism Reports//, //1//, 2-4. 2. Kishnani, P. S., Martino, H. M., Lindberg, C., Miller, T. M., & Wilson, A. (2014). Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry. //Molecular Genetics and Metabolism//, //113//, 84-91.
 * References**