Neurológia pre prax 1/2015

Pompe disease – case report of the juvenile form

Pompe disease is a rare inherited disease that is caused by a deficiency of the enzyme alpha-glucosidase, which is located in the lysosomes and isused to break down glycogen. This disease belongs to the group of lysosomal storage diseases. Excessive glycogen accumulates in the lysosomes in every cell of the body, most affected being skeletal and cardiac muscle. Clinical symptoms can vary widely according to the residual enzyme activity, infantile variants are dominated by the involvement of the heart muscle and juvenile and adult variants are dominated by skeletal muscle disease. In laboratory tests, the majority of patients display elevated levels of creatine kinase. Diagnosis of Pompe disease in patients with clinical signs of deficiency requires proof of α-glucosidase. It may be measured in samples of a muscle biopsy, cultured skin fibroblasts and purified lymphocytes. Detection of alpha-glucosidase activity in dried blood spot is a rapid, non-invasive and reliable methodology for determining GAA activity, especially as an initial screening test. In recent years enzyme replacement therapy with a recombinant purified human enzyme has been available. This paper presents a case report of the early detection of juvenile form.

Keywords: Pompe disease, acid alpha-glucosidase, myopathy.