MPS IX – Natowicz
MPS IX (Hyaluronidase deficiency) is a condition that was first noted in 1996. It 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 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.
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