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A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II

Olulade Ayodele1, Daniel Fertek2, Obaro Evuarherhe3

  • 1Takeda Development Center Americas, Inc., Lexington, MA 02421, USA.

International Journal of Neonatal Screening
|October 25, 2024
PubMed

Insights

Newborn screening for mucopolysaccharidosis (MPS) II, or Hunter syndrome, is expanding globally. While prevalence varies by region, updated screening methods are improving detection rates.

Area of Science:

  • Genetics and Genomics
  • Metabolic Disorders
  • Public Health Screening

Background:

  • Mucopolysaccharidosis (MPS) II, also known as Hunter syndrome, is a rare genetic disorder.
  • Newborn screening (NBS) for lysosomal storage diseases is an evolving field.
  • Limited formal NBS programs for MPS II existed globally until recently.

Purpose of the Study:

  • To assess the worldwide status of newborn screening for MPS II.
  • To review current NBS methodologies and reported birth prevalence.
  • To identify gaps in evidence regarding MPS II NBS.

Main Methods:

  • A systematic literature review of electronic databases was performed in July 2023.
  • Searched for articles on NBS for lysosomal storage diseases, focusing on MPS II.
  • Included studies reporting on screening programs, prevalence, and diagnostic methods.

Main Results:

  • 53 articles featured MPS II NBS; formal screening was historically limited to Taiwan and two US states.
  • MPS II was added to the US Recommended Uniform Screening Panel in 2022, anticipating wider NBS adoption.
  • Reported MPS II birth prevalence is higher than previously documented, with significant regional variation (Asia ~1:15,000; USA ~1:73,000).
  • Tandem mass spectrometry is the common first-tier test, with genetic/biochemical tests for confirmation.
  • Diagnostic challenges include pseudodeficiency alleles and variants of unknown significance.
  • Evidence on MPS II NBS is scarce outside Taiwan and the USA.

Conclusions:

  • Newborn screening for MPS II is expanding, particularly in the USA, with updated screening panels.
  • Regional differences in birth prevalence necessitate tailored screening approaches.
  • Further research is needed on diagnostic complexities and family perspectives in MPS II NBS programs.
Keywords:
lysosomal storage diseasesmucopolysaccharidosis IIneonatal screeningsystematic literature review

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