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Editorial
. 2018 Nov 16;44(Suppl 2):117.
doi: 10.1186/s13052-018-0549-y.

The new frame for Mucopolysaccharidoses

Rossella Parini  1   2 , Andrea Biondi  3
Affiliations
Editorial

The new frame for Mucopolysaccharidoses

Rossella Parini et al. Ital J Pediatr. .

Abstract

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.

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The authors declare that they have no competing interests.

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Figures

Fig. 1
Fig. 1
The leaflet from the meeting on mucopolysaccharidosis held in Milan 8–9 May 2017
See this image and copyright information in PMC

References

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