General Information About Pompe Disease
Disease Details and Frequently Asked Questions
It is a genetic, progressive muscle disease where the enzyme (GAA) responsible for breaking down cellular glycogen (stored sugar) into energy is insufficiently produced, causing glycogen to accumulate like garbage in the tissues and burst the cells.
It is caused by mutations in the gene encoding the GAA enzyme. It is inherited in an autosomal recessive manner (the child becomes ill if both the mother and father are carriers).
It is the most severe type of the disease. It begins in the first months after birth. The infant exhibits very severe muscle floppiness (frog posture), excessive enlargement of the heart muscle (cardiomyopathy), and feeding difficulties; if untreated, it is fatal within the first year of life.
If the enzyme is completely absent, it appears in infancy; if a small amount is present, it appears in adulthood. In adults, the heart is not affected, but a slowly progressive wasting and weakness are observed, especially in the leg, hip, and respiratory (diaphragm) muscles.
The muscle breakdown enzyme (CK) is very high in the blood. Definitive diagnosis is established by demonstrating the absence of GAA enzyme activity in blood leukocytes (or in a skin/muscle biopsy) and through genetic DNA analysis.
The enzyme that the body cannot produce is administered externally via an IV every two weeks (Enzyme Replacement Therapy - ERT). Although this treatment does not completely eradicate the disease, it halts muscle breakdown, reduces heart enlargement, and dramatically extends life expectancy.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
