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Creatinine kinase, an enzyme involved in muscle function, is also a biomarker for muscle degradation and can be measured in patients' skin cells or other tissues.

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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.


What has the author A N Peeling written?

A N. Peeling has written: 'Investigation of fluorogenic glucoside in diagnosis of glycogen storage disease type 2 (Pompe's disease)'


When was pompe disease discovered?

in 1932 by a dutch pathologist J Pompe


Is pompe's disease related to lipids or carbohydrates?

yes


What organelle does pompe disease affect in cell?

lysosomes


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

Lysosomes


How is diagnosis for Pompe disease peformed?

Creatinine kinase, an enzyme involved in muscle function, is also a biomarker for muscle degradation and can be measured in patients' skin cells or other tissues.


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.


How does Pompe disease affect someones life?

The muscle weakness caused by Pompe disease affects many parts of the body. It can result in difficulties with walking and moving around, breathing properly, even eating and performing basic day-to-day tasks. Because the effects of Pompe disease are wide-ranging, proper management requires a comprehensive approach.


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