Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature
Open Access
- 2 November 2020
- journal article
- research article
- Published by MDPI AG in International Journal of Neonatal Screening
- Vol. 6 (4), 85
- https://doi.org/10.3390/ijns6040085
Abstract
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 α-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.Keywords
This publication has 42 references indexed in Scilit:
- Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platformClinica Chimica Acta; International Journal of Clinical Chemistry, 2013
- A pilot newborn screening program for Mucopolysaccharidosis type I in TaiwanOrphanet Journal of Rare Diseases, 2013
- Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass SpectrometryThe Journal of Pediatrics, 2013
- Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and IIIMolecular Genetics and Metabolism, 2012
- First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA geneClinica Chimica Acta; International Journal of Clinical Chemistry, 2012
- Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early TreatmentPEDIATRICS, 2009
- Guidelines for the Management of Mucopolysaccharidosis Type IThe Journal of Pediatrics, 2009
- Risk Factor Analysis of Outcomes after Unrelated Cord Blood Transplantation in Patients with Hurler SyndromeTransplantation and Cellular Therapy, 2009
- The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UKOrphanet Journal of Rare Diseases, 2008
- The mucopolysaccharidoses: a clinical review and guide to management.Archives of Disease in Childhood, 1995