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Newborn screening for mucopolysaccharidosis type II: Lessons learned

Barbara K Burton1, Vera Shively2, Allegra Quadri2

  • 1Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Molecular Genetics and Metabolism
|March 12, 2023
PubMed

Insights

Newborn screening for mucopolysaccharidosis type II (MPS II) identified a higher incidence than previously thought, including attenuated cases. This screening approach aids in early detection and diagnosis of MPS II in infants.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare genetic disorder.
  • Early diagnosis and treatment of MPS II are crucial for improving patient outcomes.
  • Population-based newborn screening offers a potential strategy for early detection.

Purpose of the Study:

  • To evaluate the feasibility and yield of population-based newborn screening for MPS II.
  • To determine the incidence of MPS II in a screened infant population.
  • To identify attenuated phenotypes and facilitate cascade testing within families.

Main Methods:

  • Dried blood spots from 586,323 infants were analyzed for iduronate-2-sulfatase activity.
  • Infants with reduced enzyme activity were referred for diagnostic confirmation.
  • Cascade testing was performed on family members of diagnosed individuals.

Main Results:

  • Eight cases of MPS II were diagnosed, yielding an incidence of 1 in 73,290 births.
  • At least four diagnosed cases presented with an attenuated phenotype.
  • Fifty-three cases of pseudodeficiency were identified (incidence 1 in 11,062).

Conclusions:

  • Newborn screening for MPS II is effective in detecting affected infants, including those with milder forms.
  • The actual incidence of MPS II may be higher than previously estimated.
  • Screening facilitates early intervention and family-wide diagnosis, improving management of MPS II.

Keywords:
Hunter syndromeMucopolysaccharidosis type IINewborn screeningPseudodeficiency

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