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

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

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4 Scopus citations

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.

Original language	English
Article number	107557
Journal	Molecular genetics and metabolism
Volume	140
Issue number	1-2
DOIs	https://doi.org/10.1016/j.ymgme.2023.107557
State	Published - Sep 1 2023

Keywords

Hunter syndrome
Mucopolysaccharidosis type II
Newborn screening
Pseudodeficiency

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title = "Newborn screening for mucopolysaccharidosis type II: Lessons learned",

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.",

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AU - Burton, Barbara K.

AU - Shively, Vera

AU - Quadri, Allegra

AU - Warn, Lauren

AU - Burton, Jennifer

AU - Grange, Dorothy K.

AU - Christensen, Katherine

AU - Groepper, Daniel

AU - Ashbaugh, Laura

AU - Ehrhardt, Joan

AU - Basheeruddin, Khaja

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AB - 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.

KW - Hunter syndrome

KW - Mucopolysaccharidosis type II

KW - Newborn screening

KW - Pseudodeficiency

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Newborn screening for mucopolysaccharidosis type II: Lessons learned

Abstract

Keywords

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