| Hyaluronidase deficiency | |
|---|---|
| Other names | Mucopolysaccharidosis type IX |
 | |
| Specialty | Dermatology |
| Symptoms | short stature, mildly dysmorphic facial features, soft tissue masses, knee and hip pain |
| Usual onset | Childhood |
| Causes | Deficiency of the enzyme hyaluronidase |
| Frequency | less than 1 in 1,000,000 |
Hyaluronidase deficiency, also known as Mucopolysaccharidosis type IX or MPS IX, is a condition caused by mutations in theHYAL1 gene, and is characterized by multiple soft-tissue masses.[1]: 544
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:[2]
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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 ofmucopolysaccharides andenzym essays to see if there is a deficiency in the enzymehyaluronidase.[4]
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At the moment, there are no effective treatments against hyaluronidase deficiency. The only treatment they can provide is symptomatic and meant to manage and alleviate individual symptoms.[5]