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How can Pompe Disease be Treated?

How can Pompe Disease be Treated?

The arrival of Enzyme Replacement Therapy revolutionised the treatment of the often fatal disease in 2006. The enzyme alglucosidase alfa (Myozyme) has been approved for treating the condition; it compensates for the deficiency or total absence of the enzyme responsible for the disease. The drug is infused through veins.

The drug has been found to be effective in reversing the heart muscle damage inflicted by Pompe disease. It also extends life expectancy in those with the infantile form of the disease. Skeletal muscle disease may not improve with drug therapy.

Treatment of Pompe Disease: Enzyme Replacement Therapy

Management of heart failure and respiratory failure do not alter the clinical course of the disease. Similarly a high-protein diet, thought to provide temporary improvement, does not alter the disease course.

Oral therapy is still being studied.


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