Sialuria
Sialuria
Sialuria (pronounced: /siːəˈlʊəriə/), also known as French Anderson syndrome, is a rare genetic disorder characterized by the overproduction of sialic acid.
Etymology
The term "Sialuria" is derived from the Greek words "sialon" meaning saliva and "ouron" meaning urine, referring to the presence of excess sialic acid in the saliva and urine of affected individuals. The condition is also named after the American physician William French Anderson, who first described the disorder.
Symptoms
The symptoms of Sialuria can vary greatly among affected individuals. Common symptoms include developmental delay, coarse facial features, hepatomegaly (enlarged liver), and nephrotic syndrome (a kidney disorder).
Causes
Sialuria is caused by mutations in the GNE gene, which provides instructions for making an enzyme that is involved in the production of sialic acid. This mutation leads to an overproduction of sialic acid, which builds up in the body's tissues and fluids, causing the symptoms of the disorder.
Diagnosis
Diagnosis of Sialuria is typically made through biochemical testing, which can detect elevated levels of free sialic acid in the urine. Genetic testing can also be used to identify mutations in the GNE gene.
Treatment
There is currently no cure for Sialuria. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage specific symptoms.
Related Terms
External links
- Medical encyclopedia article on Sialuria
- Wikipedia's article - Sialuria
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