Diagnosis and Management of Pompe Disease

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.

References:

1. Harrison�s Principles of Internal Medicine 18^th Edition
2. The Merck Manual
3. Ausems MG, Verbiest J, Hermans MP, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. Sep 1999;7(6):713-6
4. Merk T, Wibmer T, Schumann C, Kr�ger S. Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults. Eur J Neurol. Feb 2009;16(2):274-7.

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