What this covers
The mucopolysaccharidoses (MPS) are genetic, progressive lysosomal storage disorders that affect virtually every organ and system, first identified clinically about a hundred years ago. This piece introduces a collection of reviews on MPS and comments on the main challenges the field faces.
Key takeaways
- The enzyme defects and the genes behind them are now known for all 11 different enzyme defects, and treatments exist for many MPS types, though they are only partly effective, especially when started late.
- The key problems still to solve include achieving earlier diagnosis, ensuring prompt access to therapies, improving the efficacy of existing treatments, finding new ones, and having enough specialists with expertise in MPS.
- The collection it introduces brings together reviews on the clinical presentation, the biochemical and molecular diagnosis, and the treatment of MPS, along with future directions for the field.
Why it matters
It aims to give useful, accessible information both to clinicians already caring for people with MPS and to those who want to become familiar with diagnosing and treating these conditions.
