UNIT 17.11 Diagnosing Lysosomal Storage Disorders: Pompe Disease

  1. Olaf A. Bodamer,
  2. Angela Dajnoki

Published Online: 1 OCT 2012

DOI: 10.1002/0471142905.hg1711s75

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Bodamer, O. A. and Dajnoki, A. 2012. Diagnosing Lysosomal Storage Disorders: Pompe Disease. Current Protocols in Human Genetics. 75:17.11:17.11.1–17.11.6.

Author Information

  1. Division of Clinical and Translational Genetics, Dr. John T. MacDonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida

Publication History

  1. Published Online: 1 OCT 2012


Pompe disease is a lysosomal storage disorder caused by a deficiency of acid alpha glucosidase (GAA). Diagnosis of Pompe disease is typically based on an enzyme analysis of blood or tissues, such as fibroblasts, followed by confirmation through molecular testing. The advent of fluorometric and mass spectrometry methods for enzyme analysis in dried blood spots (DBS) has simplified the diagnostic approach for Pompe disease, facilitating high-throughput screening of at-risk populations and newborn infants. The following unit will provide the detailed analytical protocol for measurement of GAA activity in DBS using tandem mass spectrometry. Curr. Protoc. Hum. Genet. 75:17.11.1-17.11.6. © 2012 by John Wiley & Sons, Inc.


  • dried blood spot;
  • acid maltase;
  • alpha glucosidase;
  • tandem mass spectrometry;
  • Pompe disease;
  • glycogen