Hereditary xanthinuria is a rare inherited disorder that affects the body's ability to break down certain proteins. It is caused by a deficiency of the enzyme xanthine oxidase, which is responsible for breaking down the amino acid xanthine. People with this disorder are unable to properly break down xanthine, leading to an accumulation of xanthine in the body. Symptoms of hereditary xanthinuria can include kidney stones, gout, and an increased risk of developing kidney and bladder stones.

The symptoms of Hereditary xanthinuria vary from person to person, but may include:

-Fatigue
-Muscle weakness
-Loss of appetite
-Weight loss
-Abdominal pain
-Nausea
-Vomiting
-Jaundice
-Dark urine
-Light-colored stools
-Itchy skin
-Yellowish discoloration of the skin and eyes (jaundice)
-Kidney stones
-Kidney failure

Hereditary xanthinuria is caused by a genetic mutation in the xanthine oxidase enzyme, which is responsible for breaking down the purine bases xanthine and hypoxanthine. This mutation prevents the enzyme from functioning properly, leading to a buildup of these compounds in the body.

The primary treatment for Hereditary xanthinuria is dietary management. This involves avoiding foods that are high in purines, such as organ meats, anchovies, sardines, and mackerel. It is also important to limit the intake of caffeine and alcohol. Additionally, supplementation with vitamin B6 and riboflavin may be recommended to help reduce the symptoms of the condition. In some cases, medications such as allopurinol may be prescribed to help reduce the levels of uric acid in the body.

1. Genetic mutation: Hereditary xanthinuria is caused by a genetic mutation in the gene responsible for the production of the enzyme xanthine oxidase.

2. Family history: Hereditary xanthinuria is an inherited disorder, so having a family history of the condition increases the risk of developing it.

3. Age: Hereditary xanthinuria is more common in children and young adults.

There is no cure for hereditary xanthinuria, but medications can be used to help manage the symptoms. These medications include allopurinol, which helps reduce the amount of uric acid in the body, and probenecid, which helps the body excrete uric acid more efficiently. Additionally, dietary changes may be recommended to reduce the amount of purines in the diet, as purines can increase the amount of uric acid in the body.