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a recombinant human acid alpha-glucosidase enzyme is being used as a potential enzyme replacement therapy. This recombinant form allows scientist to make a lot of protein

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What is the treatment for Pompe disease?

The treatment for Pompe disease usually involves enzyme replacement therapy to replace the deficient enzyme, known as acid alpha-glucosidase. This therapy can help manage symptoms and slow down disease progression. Physical therapy and other supportive treatments may also be recommended to help manage muscle weakness and respiratory complications.


How can one get Pompe disease?

Pompe disease is caused by a build up of glycogen (a type of sugar) in the cells, which causes muscles and organs not to function properly. Pompe disease is an inherited disease which means you can only get it from your parents when they both have a copy of the Pompe disease gene.


When was pompe disease discovered?

in 1932 by a dutch pathologist J Pompe


What organelle does pompe disease affect in cell?

lysosomes


Is pompe's disease related to lipids or carbohydrates?

yes


What part of the cell is defective in pompe's disease and Tay Sachs disease?

Lysosomes


Is pompe disease sex-linked?

No, Pompe disease is an autosomal recessive disorder, which means that both copies of the gene must be altered for a person to show symptoms. It is not linked to the sex chromosomes.


Defective in pompe's disease and tay-sachs disease?

Lysosomes are the organelles that become defective in these diseases.


How do you find out you have Pompe Disease?

It took 3 muscle biopsies to diagnose my Pompe. Although I believe a blood spot test is the best way to diagnose it.


Why did mrs Crowley decide to have another child if Megan had pompe disease?

Mrs. Crowley may have decided to have another child because she desired to expand her family or simply wanted another child despite the risk of the genetic disease. Additionally, Mrs. Crowley may have believed that advancements in medical research and treatment options for Pompe disease could provide better outcomes for a new child with the condition.


What organelle does Pompe Disease affect in the cell and how does this disease affect someones life?

it is were it affects your repository system


What organelle''pompe disease does affect in the cell and how does this disease affect someones life?

it is were it affects your repository system