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.

Medical and Research Information

GeneTests – Gives a list of labe who do testing for MPS IX

Patient Support Groups

  • LDNZ is the support group for families in New Zealand

There are many MPS Societies around that world that support this disorder, below are links to some of these groups where you will find extensive lists of other support groups