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

doi:10.1016/j.ymgme.2023.107557

Newborn screening for mucopolysaccharidosis type II: Lessons learned

Mol Genet Metab. 2023 Sep-Oct;140(1-2):107557. doi: 10.1016/j.ymgme.2023.107557. Epub 2023 Mar 6.

Authors

Affiliations

¹ Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address: bburton@luriechildrens.org.
² Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
³ University of Illinois College of Medicine at Peoria, Peoria, IL, USA.
⁴ University of Illinois College of Medicine at Peoria, Peoria, IL, USA; OSF St. Francis Hospital and Children's Hospital of Illinois, Peoria, IL, USA.
⁵ Washington University School of Medicine, St. Louis, MO, USA.
⁶ Saint Louis University School of Medicine, St. Louis, MO, USA.
⁷ Southern Illinois University, School of Medicine, Springfield, IL, USA.
⁸ Illinois Department of Public Health, Newborn Screening Follow-up Program, Springfield, IL, USA.
⁹ Illinois Department of Public Health, Newborn Screening Laboratory, Chicago, IL, USA.

PMID: 36907694
DOI: 10.1016/j.ymgme.2023.107557

Abstract

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.

Keywords: Hunter syndrome; Mucopolysaccharidosis type II; Newborn screening; Pseudodeficiency.

MeSH terms

Family
Humans
Iduronate Sulfatase*
Incidence
Infant
Infant, Newborn
Mucopolysaccharidosis II* / diagnosis
Mucopolysaccharidosis II* / epidemiology
Mucopolysaccharidosis II* / genetics
Neonatal Screening

Substances

Iduronate Sulfatase