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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 else can I help you with?
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.
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
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 does Pompe Disease affect in the cell and how does this disease affect someones life?
it is were it affects your repository system
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 part of the cell is defective in pompe's disease and Tay-Sachs disease?
In Pompe's disease, the defect lies in the lysosomal enzyme alpha-glucosidase, which leads to the accumulation of glycogen in lysosomes. In Tay-Sachs disease, the defect is in the enzyme hexosaminidase A, which leads to the accumulation of GM2 gangliosides in lysosomes.
