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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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∙ 13y ago
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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 disease sex-linked?
no it is not.
How is diagnosis for Pompe disease performed?
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.
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
What part of the cell is defective in pompe's disease and Tay-Sachs disease?
Lysosomes
Defective in pompe's disease and tay-sachs disease?
Lysosomes are the organelles that become defective in these diseases.
What is the treatment for Pompe disease?
There is no cure for Pompe disease. Treatment, therefore, serves only to help minimize the symptoms. The clinical course is typically not affected by drugs that are used to treat the respiratory or cardiac defects
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.
