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Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.

Shu-Chuan Chiang1, Wuh-Liang Hwu, Ni-Chung Lee

  • 1Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

Molecular Genetics and Metabolism
|May 15, 2012
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Summary

Newborn screening for Pompe disease can be improved using the neutral α-glucosidase (NAG)/acid α-glucosidase (GAA) ratio. This method enhances the accuracy of identifying affected infants, aiding early diagnosis and intervention for this rare genetic disorder.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neonatal Medicine

Background:

  • Pompe disease is a rare, progressive genetic disorder caused by acid α-glucosidase (GAA) deficiency.
  • Early diagnosis through newborn screening is crucial for managing Pompe disease, but optimal screening algorithms are still under investigation.

Purpose of the Study:

  • To evaluate the effectiveness of different enzyme activity ratios in dried blood spots for Pompe disease newborn screening.
  • To determine the best screening algorithm to accurately identify infants with Pompe disease.

Main Methods:

  • Assayed acid α-glucosidase (GAA) and neutral α-glucosidase (NAG) activities in dried blood spots (DBSs) using a fluorescence assay.
  • Compared the NAG/GAA ratio and α-galactosidase A (GLA)/GAA ratio for screening performance in 473,738 newborns.
  • Retrospectively analyzed data to identify the most effective screening algorithm.

Main Results:

  • The fluorescence assay demonstrated good reproducibility.
  • The NAG/GAA ratio was more effective than the GLA/GAA ratio in distinguishing true-positive from false-positive cases.
  • A NAG/GAA cutoff ratio of ≥60 yielded a positive predictive value (PPV) of 63.4%, with only two cases of later-onset Pompe disease potentially missed.

Conclusions:

  • Incorporating a control enzyme, such as NAG, significantly improves Pompe disease newborn screening performance.
  • The NAG/GAA ratio is a viable cutoff for newborn screening of Pompe disease, even with partial GAA deficiency.