Pompe+Disease

Pompe Disease







What’s another name? Other name for Pompe Disease is Aglucosidose Alfa and Cardiomegalia glycogenica diffusa.

How many people are affected? Pompe disease affects 1 in 40,000 people. What chromosome is this gene found on? This disease is found on chromosome 17.

How do people inherit this disorder? Pompe disease is inherited by a recessive pattern, which means both copies of the gene have mutations.

Symptoms · Muscle weakness · Poor muscle tone · Enlarged liver and heart · Heart failure · Breathing problems · Trouble swallowing-swelling tongue

Medicine and treatments ERT, Enzyme Replacement Therapy, is a treatment for people with this disease. This gives the person the enzymes they need for a source of GAA. It makes up for the missing enzyme by I.V. administration of recombinant produced enzyme. 2 websites I used to look for my information:

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