Newborn screening for mucopolysaccharidosis type II: Lessons learned

Barbara K. Burton*, Vera Shively, Allegra Quadri, Lauren Warn, Jennifer Burton, Dorothy K. Grange, Katherine Christensen, Daniel Groepper, Laura Ashbaugh, Joan Ehrhardt, Khaja Basheeruddin

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


We describe our experience with population-based newborn screening for mucopolysaccharidosis type II (MPS II) in 586,323 infants by measurement of iduronate-2-sulfatase activity in dried blood spots between December 12, 2017 and April 30, 2022. A total of 76 infants were referred for diagnostic testing, 0.01% of the screened population. Of these, eight cases of MPS II were diagnosed for an incidence of 1 in 73,290. At least four of the eight cases detected had an attenuated phenotype. In addition, cascade testing revealed a diagnosis in four extended family members. Fifty-three cases of pseudodeficiency were also identified, for an incidence of 1 in 11,062. Our data suggest that MPS II may be more common than previously recognized with a higher prevalence of attenuated cases.

Original languageEnglish (US)
Article number107557
JournalMolecular Genetics and Metabolism
Issue number1-2
StatePublished - Sep 1 2023


  • Hunter syndrome
  • Mucopolysaccharidosis type II
  • Newborn screening
  • Pseudodeficiency

ASJC Scopus subject areas

  • Genetics
  • Endocrinology
  • Molecular Biology
  • Biochemistry
  • Endocrinology, Diabetes and Metabolism


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