Xanthinuria
Xanthinuria
Xanthinuria (/zænθɪˈnʊəriə/), also known as xanthine oxidase deficiency, is a rare genetic disorder characterized by the accumulation of xanthine in the body due to the lack of an enzyme known as xanthine oxidase.
Etymology
The term "Xanthinuria" is derived from the Greek word "xanthos" meaning yellow and the Latin word "uria" meaning urine. This is because the condition often results in the excretion of yellow-colored urine.
Symptoms
Individuals with xanthinuria often do not show any symptoms. However, in some cases, the accumulation of xanthine can lead to the formation of kidney stones or crystals in the urinary tract.
Causes
Xanthinuria is caused by mutations in the XDH or MOCOS genes. These genes are responsible for producing the enzyme xanthine oxidase, which is necessary for the breakdown of xanthine in the body.
Diagnosis
Diagnosis of xanthinuria is typically made through a urine test that shows high levels of xanthine. Genetic testing can also be used to confirm the diagnosis.
Treatment
There is currently no cure for xanthinuria. Treatment typically involves a low-purine diet to reduce the levels of xanthine in the body. In some cases, medication may be prescribed to help prevent the formation of kidney stones.
Related Terms
External links
- Medical encyclopedia article on Xanthinuria
- Wikipedia's article - Xanthinuria
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