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Newborn screening of mucopolysaccharidoses: past, present, and future

Journal of Human Genetics volume 65, pages 557–567 (2020)Cite this article

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Abstract

Mucopolysaccharidoses (MPS) are a subtype of lysosomal storage disorders (LSDs) characterized by the deficiency of the enzyme involved in the breakdown of glycosaminoglycans (GAGs). Mucopolysaccharidosis type I (MPS I, Hurler Syndrome) was endorsed by the U.S. Secretary of the Department of Health and Human Services for universal newborn screening (NBS) in February 2016. Its endorsement exemplifies the need to enhance the accuracy of diagnostic testing for disorders that are considered for NBS. The progression of MPS disorders typically incudes irreversible CNS involvement, severe bone dysplasia, and cardiac and respiratory issues. Patients with MPS have a significantly decreased quality of life if untreated and require timely diagnosis and management for optimal outcomes. NBS provides the opportunity to diagnose and initiate treatment plans for MPS patients as early as possible. Most newborns with MPS are asymptomatic at birth; therefore, it is crucial to have biomarkers that can be identified in the newborn. At present, there are tiered methods and different instrumentation available for this purpose. The screening of quick, cost-effective, sensitive, and specific biomarkers in patients with MPS at birth is important. Rapid newborn diagnosis enables treatments to maximize therapeutic efficacy and to introduce immune tolerance during the neonatal period. Currently, newborn screening for MPS I and II has been implemented and/or in pilot testing in several countries. In this review article, historical aspects of NBS for MPS and the prospect of newborn screening for MPS are described, including the potential tiers of screening.

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Acknowledgements

This work was supported by grants from The Carol Ann Foundation, Angelo R. Cali and Mary V. Cali Family Foundation, Inc., The Vain and Harry Fish Foundation, Inc., The Bennett Foundation, Jacob Randall Foundation, Austrian and Japanese MPS societies, and Nemours Funds. This work was supported by the project for baby and infant in research of health and development to adolescents and young adults from Japan Agency for Medical Research and development, AMED, under grant number JP18gk0110017. RWM and ST were supported by an Institutional Development Award from the National Institute of General Medical Sciences of National Institutes of Health under grant number P30GM114736. The content of the article has not been influenced by the sponsors.

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Authors and Affiliations

  1. Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

    Nivethitha Arunkumar, Molly Stapleton, Robert W. Mason & Shunji Tomatsu

  2. Department of Health Sciences, University of Delaware, Newark, DE, USA

    Nivethitha Arunkumar

  3. Departments of Neurology Pediatrics, and Physiology and Biophysics, State University of New York at Buffalo, Buffalo, NY, USA

    Thomas J. Langan

  4. Department of Biological Sciences, University of Delaware, Newark, DE, USA

    Molly Stapleton, Robert W. Mason & Shunji Tomatsu

  5. Medical Genetics Service, HCPA, Porto Alegre, Brazil

    Francyne Kubaski

  6. Department of Genetics and Molecular Biology-PPGBM, UFRGS, Porto Alegre, Brazil

    Francyne Kubaski

  7. INAGEMP, Porto Alegre, Brazil

    Francyne Kubaski

  8. Baebies, 615 Davis Drive, Durham, NC, USA

    Rajendra Singh

  9. Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan

    Hironori Kobayashi, Seiji Yamaguchi & Shunji Tomatsu

  10. Medical Education Development Center, Gifu University, Gifu, Japan

    Yasuyuki Suzuki

  11. Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan

    Kenji Orii, Tadao Orii, Toshiyuki Fukao & Shunji Tomatsu

  12. Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA

    Shunji Tomatsu

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Contributions

NA is the primary author of this article. She has contributed to the concept, planning, data analysis, and reporting of the work described. TJL contributed to the concept of the work and contributed to the clinical descriptions and revisions. MS has contributed to the concept and planning of the project, interpretation of clinical data, and reporting of the work described. FK has contributed to the concept and planning of the project, interpretation of GAG data, and reporting of the work described. RWM has contributed to the concept and planning of the project, the draft of the paper, and reporting of the work described. RS has contributed to the concept and planning of the project, the draft of the paper, and reporting of the work described. HK has contributed to the concept and planning of the project, interpretation of GAG data, and reporting of the work described. KO has contributed to the concept and planning of the project, interpretation of clinical data, and reporting of the work described. SY has contributed to the concept and planning of the project, interpretation of clinical data, and reporting of the work described. YS has contributed to the concept and planning of the project, interpretation of clinical data, and reporting of the work described. TO, the most experienced doctor in the MPS field in Japan, has contributed to the concept and planning of the project, interpretation of clinical pictures, and GAG data, interpretation of published data and reporting of the work described. TF has contributed to the concept and planning of the project, interpretation of clinical data, and reporting of the work described. ST is a Principal Investigator for this project and has 30 years of clinical and research experience in Morquio A, publishing over 200 articles in the MPS field. He has contributed to the concept, planning, interpretation of published data, and reporting of the work described.

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Correspondence to Shunji Tomatsu.

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NA, TJL, MS, FK, RWM, RS, HK, SY, YS, KO, TO, TF, and ST contributed to the review article and had no conflict of interest with any other party. All authors declare that they have no conflict of interests.

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Arunkumar, N., Langan, T.J., Stapleton, M. et al. Newborn screening of mucopolysaccharidoses: past, present, and future. J Hum Genet 65, 557–567 (2020). https://doi.org/10.1038/s10038-020-0744-8

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