source: MPS Society UK
MPS IX, known as Natowicz disease, is one of the mucopolysaccharide storage diseases. MPS IX was first noted in 1996. People with MPS IX are low in an enzyme called hyaluronidase which is essential in breaking down mucopolysaccharide hyaluronan. When hyaluronan is not completely broken down it remains stored in the body. The symptoms of MPS IX are a result of the build-up of hyaluronan in the tissues in the body. Babies may show little sign of the disease but as more and more cells build-up of partially broken down mucopolysaccharides, symptoms start to appear.
How Common Is MPX IX?
It is estimated that nearly 6% of the UK population (around 3.5million people) will be affected by a rare disease at some point in their lives. A single rare disease may affect up to about 30,000 people however the vast majority of rare diseases affect far fewer than this. As of 2001, only one case of MPS IX had been reported.
How Are People With MPS IX Affected?
For people with MPS IX symptoms may include mild short stature, frequent ear infections, facial changes including flattened nose bridge and a cleft palate. Development of soft-tissue masses has been noted but joint movement and intelligence is normal.