Hyaluronidaasia

Hyaluronidaasia is a rare genetic disorder characterized by the absence of hyaluronan, a type of glycosaminoglycan, in the body. Hyaluronan is a crucial component of the extracellular matrix, playing a vital role in maintaining the structural integrity and function of various tissues and organs. The primary symptom of hyaluronidaasia is a distinctive physical appearance, with patients often presenting with a "dwarfism-like" stature due to the lack of hyaluronan in the growth plates of bones. Other symptoms may include joint laxity, skin fragility, and a tendency towards recurrent infections. The disorder is caused by mutations in the HAS1 or HAS2 genes, which are responsible for encoding the enzymes necessary for hyaluronan synthesis. Diagnosis typically involves a combination of clinical evaluation, genetic testing, and biochemical analysis. There is currently no cure for hyaluronidaasia, and treatment focuses on managing symptoms and supporting overall health.