Abstract
Pompe disease (OMIM #232300) or glycogen storage disease type II is an autosomal recessive lysosomal storage disease caused by mutations in the glucosidase alpha acid (GAA) gene. The acid alpha-glucosidase enzyme is required for the degradation of cellular glycogen, and its reduced activity results in accumulation of glycogen in muscle and cardiac tissues with variable clinical presentation. Demonstration of deficient acid alpha-glucosidase (GAA) enzyme activity is diagnostic, and molecular testing is available for confirmation or clarification. As Pompe disease is in the differential diagnosis of a wide variety of myopathies, simple first-line tests are needed. Use of dried blood spots (DBS) has logistical advantages over the traditional approach of enzyme assay in isolated lymphocytes, and enzyme stability permits DBS shipment to a central laboratory.
Highlights
Open AccessThree years experience with dried blood spot a-glucosidase screening for Pompe disease in British Columbia, Canada
Pompe disease (OMIM #232300) or glycogen storage disease type II is an autosomal recessive lysosomal storage disease caused by mutations in the glucosidase alpha acid (GAA) gene
Out of 149 samples tested, three cases of Pompe disease were detected by dried blood spots (DBS) assay during a three year period
Summary
Three years experience with dried blood spot a-glucosidase screening for Pompe disease in British Columbia, Canada. Gabriella Horvath*, Sandra Sirrs, Sylvia Stockler, Ramona Salvarinova-Zivkovic, Hilary Vallance, Paula Waters. From Proceedings of the 6th European Symposium: Steps Forward in Pompe Disease Berlin, Germany. From Proceedings of the 6th European Symposium: Steps Forward in Pompe Disease Berlin, Germany. 23-24 November 2012
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