What this covers
The mucopolysaccharidoses (MPS) are a group of rare inherited disorders in which the body cannot properly break down complex sugars called glycosaminoglycans, causing them to build up in tissues. This review focuses on growth impairment in untreated patients, describing how the build-up of these sugars in bone and cartilage damages the growth plate and leads to short stature and a range of skeletal abnormalities.
Key takeaways
- Bone growth impairment and short stature are among the most common features of MPS, arising as glycosaminoglycans accumulate in bone and cartilage.
- The damage can produce disproportionate dwarfism alongside abnormalities such as joint rigidity, kyphoscoliosis and changes to the vertebrae, hips and knees.
- Left untreated, these skeletal problems significantly affect quality of life and daily activities, contributing to high morbidity.
Why it matters
By describing the natural course of growth across the different MPS types and comparing it with healthy peers, the review provides a foundation for recognising the condition and for judging how well future treatments work.
