Ital J Pediatr. 2018; 44 (Suppl 2): 117
Rossella Parinic and Andrea Biondi
Mucopolysaccharidoses (MPS) are genetic, progressive, lysosomal storage disorders affecting virtually all organs and systems. The first MPS were clinically identified about 100 years ago. Nowadays, the enzyme defects and related genes are known for all 11 different enzyme defects. Treatments are available for many MPS but these have only partial efficacy, especially when started late. The problems to solve are: 1) the need for an earlier diagnosis (neonatal screening? improving the awareness of physicians?); 2) prompt access to therapies; 3) improving the efficacy of the available treatments; 4) finding new treatments; and 5) the availability of specialist experts in MPS who can meet the traditional needs of MPS patients. This introduction to the IJP Supplement on MPS is a brief comment on the different papers accepted for this volume, which are in turn the elaboration of the lectures given at a meeting on the future of mucopolysaccharidoses held in Milan on 8–9 May 2017.
This supplemental issue of the Italian Journal of Pediatrics presents relevant reviews on the clinical presentation, biochemical and molecular diagnosis, and palliative and etiologic treatments of mucopolysaccharidoses (MPS), and future directions for their diagnosis and treatment. We decided to collect all these reviews into one issue during a meeting on MPS which was organized in Milan on 8–9 May 2017 (Fig. 1) with the sponsorship of many institutions and the financial support of BioMarin, Sanofi Genzyme, Shire, Ultragenyx and Chiesi. Our aim is to provide, in a succinct but not trivial manner, useful information to clinicians already caring for individuals with MPS and those who do not follow MPS patients and who want to become acquainted in their diagnosis and treatment. In this brief preface, we will introduce the articles in the Supplement and make a few comments on the current challenges seen in MPS disorders.
