Newborn screening of mucopolysaccharidoses: past, present, and future
| Autor: | Toshiyuki Fukao, Tadao Orii, Nivethitha Arunkumar, Kenji E. Orii, Robert W. Mason, Hironori Kobayashi, Yasuyuki Suzuki, Thomas J. Langan, Seiji Yamaguchi, Molly Stapleton, Rajendra Singh, Francyne Kubaski, Shunji Tomatsu |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Newborn screening business.industry nutritional and metabolic diseases Lysosomal storage disorders 030105 genetics & heredity medicine.disease Asymptomatic Review article 03 medical and health sciences Mucopolysaccharidosis type I 030104 developmental biology Quality of life Genetics medicine In patient medicine.symptom skin and connective tissue diseases Intensive care medicine business Hurler syndrome Genetics (clinical) |
| Zdroj: | Journal of Human Genetics. 65:557-567 |
| ISSN: | 1435-232X 1434-5161 |
| DOI: | 10.1038/s10038-020-0744-8 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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