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Newborn screening: Taiwanese experience

Yin-Hsiu Chien1,2, Wuh-Liang Hwu1,2, Ni-Chung Lee1,2

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

Annals of Translational Medicine
|August 9, 2019
PubMed

Insights

Newborn screening (NBS) for Pompe disease in Taiwan has evolved, identifying patients early. Challenges remain in managing diagnosed infants without symptoms and improving current therapies.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Pompe disease, a rare genetic disorder, requires early diagnosis for effective treatment.
  • Newborn screening (NBS) is crucial for identifying Pompe disease in asymptomatic infants.
  • Taiwan's population presents unique challenges due to a prevalent pseudodeficiency variant.

Purpose of the Study:

  • To describe the evolution of NBS methods for Pompe disease in Taiwan.
  • To review and update the outcomes of NBS-identified Pompe disease patients.
  • To discuss limitations in current Pompe disease therapy and challenges in managing diagnosed infants.

Main Methods:

  • Review of historical and current NBS methodologies for Pompe disease in Taiwan.
  • Analysis of clinical outcomes for infants identified through NBS.
  • Literature review on current therapeutic limitations and management strategies.

Main Results:

  • The evolution of NBS in Taiwan has enabled earlier diagnosis of Pompe disease.
  • Outcomes for NBS-identified patients have been updated, highlighting treatment efficacy and limitations.
  • Significant challenges exist in managing infants diagnosed via NBS but showing no immediate clinical manifestations.

Conclusions:

  • Continued refinement of NBS protocols is necessary for optimal Pompe disease detection.
  • Current therapies for Pompe disease have limitations, necessitating further research.
  • Development of predictive biomarkers and improved treatment strategies are essential for managing diagnosed infants.

Keywords:
Pompe diseaseacid α-glucosidaseenzyme replacement therapy (ERT)newborn screening (NBS)second-tier

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