Hyaluronidase deficiency

Hyaluronidase deficiency, also known as Mucopolysaccharidosis type IX or MPS IX, is a condition caused by mutations in the HYAL1 gene, and is characterized by multiple soft-tissue masses.

Signs and symptoms

As hyaluronidase deficiency is an extremely rare disorder, a clear clinical picture of the disease has not been formed. However, the following symptoms may occur:

Multiple soft tissue masses which may experience temporary episodes of painful swelling.
Temporary episodes of generalized cutaneous swelling.
Frequent episodes of otitis media.
Short stature.
Mildy dysmorphic facial features such as a flattened nasal bridge, a bifid uvula, and a submucosal cleft palate.
Joint movement and intellectual ability are unaffected.

Diagnosis

It is diagnosed through a combination of a thorough clinical evaluation in which characteristic findings are identified, specialized tests that can detect things like excessive levels of mucopolysaccharides and enzym essays to see if there is a deficiency in the enzyme hyaluronidase.

Treatment

At the moment, there are no effective treatments against hyaluronidase deficiency. The only treatment possible is symptomatic and meant to manage and alleviate individual symptoms.