Pompeizomdystrophia
Pompeizomdystrophia is a rare, inherited metabolic disorder that affects muscles. It is caused by a deficiency in an enzyme called acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down a complex sugar called glycogen within the body's cells, particularly muscle cells. When GAA is deficient, glycogen accumulates to toxic levels within lysosomes, leading to progressive muscle weakness and degeneration.
The condition is categorized into infantile-onset and late-onset forms, distinguished by the age at which symptoms
Diagnosis involves measuring GAA enzyme activity in blood or skin cells, often followed by genetic testing