Hyaluronidase deficiency
Hyaluronidase deficiency is a rare genetic disorder characterized by an absence or reduction in the activity of the enzyme hyaluronidase. This enzyme is responsible for the breakdown of hyaluronic acid, a substance that helps to lubricate and cushion the joints and tissues in the body.
Pronunciation
Hyaluronidase deficiency is pronounced as hi-a-loo-ron-i-dase deficiency.
Etymology
The term "Hyaluronidase" is derived from "hyaluronic acid," the substance it breaks down, and "-ase," a suffix used in biochemistry to denote an enzyme. The term "deficiency" comes from the Latin "deficientia," meaning "a lack or shortage."
Symptoms
Symptoms of hyaluronidase deficiency can vary widely, but may include joint pain, skin lesions, and growth retardation. In severe cases, it can lead to mucopolysaccharidosis, a group of metabolic disorders characterized by the buildup of large sugar molecules called glycosaminoglycans in the body's cells and tissues.
Diagnosis
Diagnosis of hyaluronidase deficiency typically involves genetic testing to identify mutations in the HYAL1 gene, which provides instructions for making the hyaluronidase enzyme.
Treatment
There is currently no cure for hyaluronidase deficiency. Treatment is typically focused on managing symptoms and may include pain management, physical therapy, and occupational therapy.
See also
External links
- Medical encyclopedia article on Hyaluronidase deficiency
- Wikipedia's article - Hyaluronidase deficiency
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