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Updated: May 17, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Diagnosing lysosomal storage disorders: Pompe disease
Olaf A Bodamer1, Angela Dajnoki
1Division of Clinical and Translational Genetics, Dr. John T. MacDonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Current Protocols in Human Genetics
|October 18, 2012
Summary
Pompe disease diagnosis is simplified using enzyme analysis in dried blood spots. Tandem mass spectrometry offers a reliable method for measuring acid alpha glucosidase (GAA) activity, aiding early detection.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Pompe disease is a rare genetic disorder caused by acid alpha glucosidase (GAA) deficiency.
- Lysosomal storage disorders like Pompe disease require accurate diagnostic methods.
- Traditional diagnosis involves enzyme analysis and molecular testing.
Purpose of the Study:
- To detail an analytical protocol for measuring GAA activity in dried blood spots (DBS).
- To establish a high-throughput screening method for Pompe disease.
- To facilitate early diagnosis in at-risk populations and newborns.
Main Methods:
- Enzyme activity measurement using tandem mass spectrometry.
- Analysis of dried blood spots (DBS) for GAA activity.
- Detailed protocol for GAA quantification in DBS samples.
Main Results:
- Fluorometric and mass spectrometry methods simplify Pompe disease diagnosis.
- DBS analysis enables high-throughput screening.
- Accurate GAA activity measurement is achievable with tandem mass spectrometry.
Conclusions:
- Tandem mass spectrometry provides a robust method for GAA activity measurement in DBS.
- This protocol facilitates simplified and efficient screening for Pompe disease.
- Early diagnosis through reliable enzyme analysis is crucial for Pompe disease management.
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