Pompe disease screening
Also written as: GAA — acid alpha-glucosidase
Enzymatic assay measuring acid alpha-glucosidase activity in dried blood spots to detect glycogen storage disease type II.
Full Definition
Pompe disease screening detects deficiency of acid alpha-glucosidase (GAA), the enzyme responsible for breaking down glycogen in lysosomes. This glycogen storage disease type II can present in infantile or late-onset forms, with the infantile form causing severe cardiomyopathy and muscle weakness leading to death within the first year if untreated. The screening assay measures GAA enzyme activity using fluorometric techniques on dried blood spots, often employing cocktail assays that test multiple lysosomal enzymes simultaneously. Early detection enables prompt initiation of enzyme replacement therapy with recombinant human GAA, which can significantly improve outcomes, particularly for the infantile form where early treatment is critical for survival.
Usage
Usage note: Named after Dutch pathologist J.C. Pompe; always capitalize the proper noun portion.
In Context
- "Pompe disease screening identified an infant with severely reduced GAA activity requiring immediate treatment." — Case report
- "The laboratory implemented multiplex enzyme assays including Pompe disease screening." — Technical protocol