{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T23:01:03Z","timestamp":1766530863097,"version":"build-2065373602"},"reference-count":65,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T00:00:00Z","timestamp":1668470400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the Eunice Kennedy Shriver National Institute of Child Health and Human Development","award":["1R01HD104814-01A1"],"award-info":[{"award-number":["1R01HD104814-01A1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services\u2019 Recommended Uniform Screening Panel (RUSP) suggests LSDs for inclusion in state universal newborn screening (NBS) programs and has identified screening deficiencies in MPS I, KD, and PD NBS programs. MPS I NBS programs utilize newborn dried blood spots and assay alpha L-iduronidase (IDUA) enzyme to screen for potential cases. Glycosaminoglycans (GAGs) offer potential as a confirmatory test. KD NBS programs utilize galactocerebrosidase (GaLC) as an initial test, with psychosine (PSY) activity increasingly used as a confirmatory test for predicting onset of Krabbe disease, though with an excessive false positive rate. PD is marked by a deficiency in acid \u03b1-glucosidase (GAA), causing increased glycogen, creatine (CRE), and other biomarkers. Bivariate normal limit (BVNL) methods have been applied to GaLC and PSY activity to produce a NBS tool for KD, and more recently, to IDUA and GAG activity to develop a NBS tool for MPS I. A BVNL tool based on GAA and CRE is in development for infantile PD diagnosis. Early infantile KD, MPS I, and PD cases were pre-symptomatically identified by BVNL-based NBS tools. This article reviews these developments, discusses how they address screening deficiencies identified by the RUSP and may improve NBS more generally.<\/jats:p>","DOI":"10.3390\/ijns8040061","type":"journal-article","created":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T02:32:16Z","timestamp":1668479536000},"page":"61","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease"],"prefix":"10.3390","volume":"8","author":[{"given":"Kabir","family":"Jalal","sequence":"first","affiliation":[{"name":"Department of Biostatistics, Population Health Observatory, School of Public Health and Health Professions, University at Buffalo, Buffalo, NY 14214, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Randy L.","family":"Carter","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Population Health Observatory, School of Public Health and Health Professions, University at Buffalo, Buffalo, NY 14214, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3019-8970","authenticated-orcid":false,"given":"Amy","family":"Barczykowski","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Population Health Observatory, School of Public Health and Health Professions, University at Buffalo, Buffalo, NY 14214, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0673-2160","authenticated-orcid":false,"given":"Shunji","family":"Tomatsu","sequence":"additional","affiliation":[{"name":"Nemours\/Alfred I. DuPont Hospital for Children, Wilmington, DE 19803, USA"},{"name":"Department of Biological Sciences, University of Delaware, Newark, DE 19797, USA"},{"name":"Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA"},{"name":"Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1194, Japan"},{"name":"Department of Pediatrics, Shimane University, Matsue 690-0823, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8187-8728","authenticated-orcid":false,"given":"Thomas J.","family":"Langan","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY 14214, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,15]]},"reference":[{"key":"ref_1","first-page":"119","article-title":"Diagnostic methods for Lysosomal Storage Disease","volume":"7","author":"Mokhtariye","year":"2019","journal-title":"Rep. 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