How can we Diagnose Pompe Disease?
The enzyme alglucosidase alfa (Myozyme) has been approved for treating Pompe disease. A definitive diagnosis can be made by measuring the activity of the enzyme acid alpha-glucosidase.
Enzyme Studies
A definitive diagnosis of Pompe disease can be made by measuring the activity of the enzyme acid alpha-glucosidase in blood and skin tissue samples. A muscle biopsy, though diagnostic, is not always needed and is unnecessarily invasive.
Enzymes like serum creatine kinase (CK) and serum aspartate aminotransferase are measured to assess the extent of muscle damage and liver damage respectively.
Imaging Studies
Involvement of the heart can be detected using echocardiography. It also helps to distinguish between the infantile and juvenile forms of Pompe disease. ECG is also employed for assessing the involvement. Electromyography (EMG) helps to identify the muscular pattern of involvement. Microscopic studies are not necessary to establish a diagnosis of Pompe disease.
