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.
in 1932 by a dutch pathologist J Pompe
no it is not.
lysosomes
yes
Lysosomes
Lysosomes
Lysosomes are the organelles that become defective in these diseases.
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
It took 3 muscle biopsies to diagnose my Pompe. Although I believe a blood spot test is the best way to diagnose it.
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.
it is were it affects your repository system