{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:15:07Z","timestamp":1789179307176,"version":"build-2803163510"},"reference-count":42,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2020,11,2]],"date-time":"2020-11-02T00:00:00Z","timestamp":1604275200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Mucopolysaccharidosis type I (MPS I) is a progressive lysosomal storage disease, with neurological and visceral involvement, in which early diagnosis through newborn screening (NBS) and early treatment can improve outcomes. We present our first 5 years of experience with laboratory and clinical management of NBS for MPS I. Since 2015, we have screened 160,011 newborns by measuring \u03b1-L-iduronidase (IDUA) activity and, since 2019, glycosaminoglycans (GAGs) in dried blood spot (DBS) as a second-tier test. Positive screening patients were referred to our clinic for confirmatory clinical and molecular testing. We found two patients affected by MPS I (incidence of 1:80,005). Before the introduction of second-tier testing, we found a high rate of false-positives due to pseudodeficiency. With GAG analysis in DBS as a second-tier test, no false-positive newborns were referred to our clinic. The confirmed patients were early treated with enzyme replacement therapy and bone-marrow transplantation. For both, the clinical outcome of the disease is in the normal range. Our experience confirms that NBS for MPS I is feasible and effective, along with the need to include GAG assay as a second-tier test. Follow-up of the two positive cases identified confirms the importance of early diagnosis through NBS and early treatment to improve the outcome of these patients.<\/jats:p>","DOI":"10.3390\/ijns6040085","type":"journal-article","created":{"date-parts":[[2020,11,2]],"date-time":"2020-11-02T19:51:31Z","timestamp":1604346691000},"page":"85","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature"],"prefix":"10.3390","volume":"6","author":[{"given":"Vincenza","family":"Gragnaniello","sequence":"first","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, via Orus 2\/B, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Gueraldi","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, via Orus 2\/B, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Rubert","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, via Orus 2\/B, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3656-0910","authenticated-orcid":false,"given":"Francesca","family":"Manzoni","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, via Orus 2\/B, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Cazzorla","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, via Orus 2\/B, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Giuliani","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, via Orus 2\/B, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3157-2979","authenticated-orcid":false,"given":"Giulia","family":"Polo","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, via Orus 2\/B, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Salviati","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Diagnostic Services, University Hospital of Padua, via Giustiniani 2, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7724-137X","authenticated-orcid":false,"given":"Alberto","family":"Burlina","sequence":"additional","affiliation":[{"name":"Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, via Orus 2\/B, 35129 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,2]]},"reference":[{"key":"ref_1","unstructured":"Scriver, C., Beaudet, A., Sly, W., and Valle, D. 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