Pompe+disease111

=Pompe Disease(Glycogen Storage disease type 2):=
 * an inherited disorder by the build up of a complex sugar called glycogen in body cells
 * having glycogen certain organs and tissues, especially muscles, effects a persons ability to function properly
 * there is three types of pompe disease; classic infantile-onset, non-classic infantile-onset, and late-onset
 * caused by inborn lack of enzyme alpha 1, 4 glucosidase (lysosomal glucosidase; acid maltase) which is necessary to break down glycogen
 * mutation in the GAA gene is a cause of Pompe disease.The GAA gene provides the instructions for producing an enzyme called acid alpha- glucosidase means both copies  in the gene have mutations.
 * To treat pompe disease people can go see specialist to reduce the heart size and maintain normal heart functions, improve muscle functions, tome and strengthen and reduce glycogen accumulation