Description
Pompe disease (glycogen storage disease type II) is a rare hereditary lysosomal storage disease associated with a deficiency of the enzyme acid maltase (acid alpha-glucosidase, GAA) in lysosomes. It is inherited in an autosomal recessive manner. The clinical picture is caused by aberrant accumulation of glycogen in organs and tissues. Glycogen accumulates predominantly in skeletal muscles, but can also be found to varying degrees in other organs and tissues, including the cardiac muscle, liver, nervous system, and smooth muscles. The cause is pathogenic variants in the GAA gene. To slow the progression of the disease, enzyme replacement therapy is used after verification of the diagnosis by molecular genetic methods.
Period of execution
Within 11 days. The specified time does not include the day of biomaterial collection
Biomaterial type