MPS IX

MPS IX – Natowicz

General Description

MPS IX (Hyaluronidase deficiency) is a condition that was first noted in 1996. It is caused by a deficiency of the enzyme, hyaluronidase and is caused by a deficiency of the enzyme hyaluronidase.

This enzyme is used in the lysosome to break down a complex string of sugars known as Glycosaminoglycans (GAGs), often referred to as mucopolysaccharides. In individuals inflicted with MPS IX , the GAG accumulates resulting in symptoms of this disorder.

Symptoms

Symptoms include nodular soft-tissue masses located around joints, with periodic episodes of painful swelling of the masses . This pain spontaneously ends within three days.

Other symptoms of this disease include a flattened nose bridge and a cleft palate. Short stature is also a noted symptom. Intelligence has not been noted in MPS IX

If you would like more information please email mps@mpssociety.org.uk.