Special Issue "Neonatal Screening for Mucopolysaccharidoses"

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: 31 August 2020.

Special Issue Editors

Prof. Dr. Alberto Burlina
Guest Editor
Director, Division of Inborn Errors of Metabolism, North East Italy Newborn Screening Center, University-Hospital of Padova, Italy
Interests: clinical and biochemical characterisation of inborn errors of intermediary metabolism; clinical application of tandem mass spectrometry; neurotransmitters defects; metabolic diseases in adulthood; development of new therapies; NBS new programs for inborn errors of metabolism
Prof. Dr. Barbara K. Burton

Guest Editor
Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA
Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
Prof. Dr. Roberto Giugliani

Guest Editor
Department of Genetics of the Federal University of Rio Grande do Sul, 90035-007 Porto Alegre, Brazil
Medical Genetics Service of Hospital de Clinicas de Porto Alegre, 90035-007 Porto Alegre, Brazil
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Special Issue Information

Dear Colleagues,

The suspicion of mucopolysaccharidosis (MPS) might arise from clinical observation of typical signs and symptoms, followed by laboratory confirmation with specific enzyme assays, evaluation of urinary GAGs and molecular genetics analyses. Nowadays, diagnosis of a metabolic disorder may also come from neonatal screening approach. Among MPS disorders, MPS I is the most suitable to be included in neonatal screening programs because the advantage of an early diagnosis allowing early treatment is quite evident. Regular programs and pilot studies on MPS I screening are ongoing now in many countries worldwide. Other treatable MPS (MPS II, IVA, VI, and VII) are also being considered, with neonatal screening already in place or planned for some of them. Public health decisions to include MPS in the neonatal screening should also take into consideration the ethical aspects, as it involves apparently healthy babies and must know how to face, for example, findings such as pseudodeficiency or genetic variants of uncertain significance. As a consequence, physicians should learn how to modulate communication of the screening results to parents, and laboratories should perform and give prompt results of second-tier tests; psychological support services for the families are also needed. As with other groups of diseases, newborn screening for MPS raises the risk of overtreatment and, since all MPS are very rare diseases, evidence of its efficacy is difficult to demonstrate using standard analyses. 

This Special Issue on Newborn Screening for MPS diseases, to be published in the International Journal of Neonatal Screening, will focus on newborn screening experiences and short- and long-term follow-up of newborns identified with different types of MPS. We think this Special Issue comes at a very appropriate moment, and we thank all contributing authors in advance.

Prof. Dr. Alberto Burlina
Prof. Dr. Barbara K. Burton
Prof. Dr. Roberto Giugliani
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • neonatal screening
  • Mucopolysaccharidosis type I,II,IVA,VI,VII
  • second-tier test

Published Papers

This special issue is now open for submission.
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