Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase. This enzyme is essential for breaking down glycogen, a stored form of sugar, in the body's cells. When the enzyme is lacking, glycogen accumulates, particularly in the heart and skeletal muscles, leading to progressive muscle weakness and respiratory issues. Symptoms of Pompe disease can vary widely, ranging from severe infantile forms that appear within the first few months of life to milder late-onset forms that may not manifest until adulthood. Early diagnosis and treatment, including enzyme replacement therapy, can help manage the condition and improve quality of life.