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
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
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
lysosomes
yes
Lysosomes
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.
Lysosomes are the organelles that become defective in these diseases.
It took 3 muscle biopsies to diagnose my Pompe. Although I believe a blood spot test is the best way to diagnose it.
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.
it is were it affects your repository system
it is were it affects your repository system