What is MPS IX (Natowicz)?

Mucopolysaccharidosis type IX (Hyaluronidase deficiency) is also called Natowicz syndrome. It was first noted in 1996. Symptoms of MPS IX are periodically painful soft tissue masses around the joints, acquired short stature and erosion of the hip joint, although joint movement and intelligence are normal. 

There is no cure for MPS diseases, but there are ways of managing and treating the problems they cause.

What causes this disease?

Mucopolysaccharides are long chains of sugar molecule used in the building of connective tissues in the body.

  • “saccharide” is a general term for a sugar molecule (think of saccharin).
  • “poly” means many
  • “muco” refers to the thick jelly-like consistency of the molecules

There is a continuous process in the body of replacing used materials and breaking them down for disposal.

Children with these diseases are missing an enzyme called 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.

What are the 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. 

Is there a cure for MPS IX

There is no cure.

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