Pompe’s disease: a review article

Amal Sebastian., Ahammed Fuwad C H., Muhammed Ashique K and Ren Joy Mathew

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Mutations in the GAA gene cause Pompe disease. Current estimates for Pompe disease put the overall disease incidence at approximately 1 in 40,000 live births The muscle biopsy and GAA enzyme levels are monitored for the diagnosis of pompe disease. Pompe disease include respiratory, cardiac and movement problems. There is no cure for pompe disease. Usually electrolyte replacement therapy is done to treat pompe disease.

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DOI: http://dx.doi.org/10.24327/23956429.ijcmpr20170035