A rare genetic disorder called Pompe Disease, also called glycogen storage disease type II or acid maltase deficiency, occurs when glycogen builds up in muscles and cells. A brief overview of its causes, symptoms, diagnosis, treatment, and prevention methods follows:
Causes
Mutations in the GAA gene cause Pompe Disease, a disease in which the acid alpha-glucosidase (GAA) enzyme is produced. Within lysosomes, the cell's recycling center, this enzyme breaks down glycogen into glucose. When GAA gene mutations occur, the enzyme activity is reduced or absent, resulting in glycogen accumulation in cells, particularly in muscle cells.
Symptoms
Based on the severity of the disease and the age at which it occurs, Pompe Disease can cause a wide range of symptoms. Symptoms of Pompe Disease include muscle weakness, poor muscle tone (hypotonia), respiratory problems, enlarged hearts (cardiomegaly), and failure to thrive in infants with the classic infantile-onset form. Late-onset Pompe Disease may cause progressive muscle weakness, fatigue, difficulty breathing, and problems with mobility and motor function.
Diagnosis
Clinical evaluation, medical history review, and laboratory tests are combined to diagnose Pompe Disease. Blood tests can be performed by healthcare providers for GAA enzyme levels or muscle biopsy to determine glycogen accumulation in muscle tissue. Genetic testing can confirm the presence of mutations in the GAA gene. It is also possible to evaluate heart function and muscle involvement using imaging studies like echocardiography and MRI.
Treatment
Enzyme replacement therapy (ERT) is the primary treatment for Pompe Disease in order to manage symptoms, improve quality of life, and slow the progression of the disease. By infusing a synthetic form of the GAA enzyme intravenously, ERT breaks down glycogen and reduces its accumulation. Early intervention with ERT can improve muscle strength, mobility, and respiratory function. Physical therapy, respiratory support, and nutritional support may also be recommended to address specific symptoms and complications of Pompe disease.
Prevention
As Pompe Disease is a genetic disorder, there are no known strategies for preventing its occurrence. Those with Pompe Disease or GAA gene mutations may be offered genetic counseling and prenatal testing. It is possible to improve outcomes for Pompe Disease patients by detecting the disease early and initiating treatment as soon as possible.
