About Xanthinuria type II

What is Xanthinuria type II?

Xanthinuria type II is a rare inherited disorder caused by a deficiency of the enzyme xanthine oxidase. This enzyme is responsible for breaking down the compounds xanthine and hypoxanthine, which are found in the body. People with this disorder are unable to break down these compounds, leading to an accumulation of xanthine and hypoxanthine in the body. Symptoms of Xanthinuria type II include kidney stones, gout, and an increased risk of developing kidney and bladder infections.

What are the symptoms of Xanthinuria type II?

Symptoms of Xanthinuria type II include:

-Fatigue
-Weakness
-Muscle cramps
-Loss of appetite
-Weight loss
-Nausea
-Vomiting
-Abdominal pain
-Jaundice
-Dark urine
-Light-colored stools
-Itchy skin
-Yellowing of the skin and eyes (jaundice)
-Enlarged liver
-Enlarged spleen
-Kidney stones
-High levels of uric acid in the blood (hyperuricemia)
-High levels of xanthine in the urine (xanthinuria)

What are the causes of Xanthinuria type II?

Xanthinuria type II is caused by a deficiency of the enzyme xanthine oxidase, which is responsible for breaking down the purine bases xanthine and hypoxanthine. This deficiency can be caused by a genetic mutation, or it can be acquired due to certain medications, such as allopurinol, or due to certain medical conditions, such as kidney failure or liver disease.

What are the treatments for Xanthinuria type II?

The primary treatment for Xanthinuria type II 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, alcohol, and high-protein foods. Additionally, supplementation with riboflavin (vitamin B2) and thiamine (vitamin B1) may be recommended to help the body break down purines. In some cases, medications such as allopurinol may be prescribed to reduce the amount of uric acid in the body.

What are the risk factors for Xanthinuria type II?

1. Genetic predisposition: Xanthinuria type II is an inherited disorder caused by mutations in the gene SLC2A9.

2. Age: Xanthinuria type II is more common in adults than in children.

3. Diet: A diet low in purines can increase the risk of developing Xanthinuria type II.

4. Certain medications: Certain medications, such as allopurinol, can increase the risk of developing Xanthinuria type II.

Is there a cure/medications for Xanthinuria type II?

There is no known cure for Xanthinuria type II, but medications may be used to help manage the symptoms. These medications may include diuretics, anticonvulsants, and vitamin supplements. Additionally, dietary changes may be recommended to help reduce the amount of xanthine in the body.