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Article

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.

American journal of medical genetics. Part A - 1 Apr 2025

Grady Lauren O, Zoltick Emilie S, Zouk Hana, He Wei, Perez Emma, Clarke Lorne, Gold Jessica, Strong Alanna, Sahai Inderneel, Yeo Julie, Green Robert C, Karaa Amel, Gold Nina B

Abstract excerpt

Mucopolysaccharidosis type I (MPS I), a lysosomal disorder caused by variants in IDUA, was added to the Recommended Uniform Screening Panel for newborn screening in 2016. Positive screening results for MPS I are commonly due to variants known as "pseudodeficiency alleles," which decrease in vitro alpha-L-iduronidase enzyme activity but are thought to provide sufficient in vivo activity. Despite the historic...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 39559959
DOI: 10.1002/ajmg.a.63940
PMCID: PMC11885009

Genes

IDUA

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