Xanthinuria
Definition:

Xanthinuria otherwise known as the Xanthine oxydase deficiency , is a genetic disorder which causes deficiency of xanthine oxidase which is an enzyme that is needed for converting the xanthine to uric acid.


Diagnosis:

Diagnosis includes examination of family history and certain medical tests.


Treatment:

Currently, there is no treatment available for Xanthinuria . However, there are treatment and maintenance needed to keep a balance fluid in the body and avoiding high purine foods.


Symptoms and Signs:

Symptoms includes unusually high concentrations of xanthine in the blood and urine which can lead to renal problems and a xanthine kidney stones (Hille R. (2006). "Structure and Function of Xanthine Oxidoreductase" European Journal of Inorganic Chemistry 2006 (10), 1905-2095).


Causes:

Xanthinuria or the Xanthine oxydase deficiency is said to be an inherited deficiency.