Hyaluronidase deficiency
Template:Infobox medical condition (new) 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.[1]Template:Rp
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:[2]
- 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 (split) uvula, and a submucosal cleft palate.
- Joint movement and intellectual ability are unaffected.[3]
Diagnosis
Script error: No such module "Unsubst". 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.[4]
Treatment
Script error: No such module "Unsubst". 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.[5]
See also
References
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Further reading
- Clinical and Biochemical Manifestations of Hyaluronidase Deficiency
- Macon Meereskosmetik (in German)
- Hyaluronidase deficiency
External links
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