Xanthinuria type I is a rare inherited disorder caused by a deficiency of the enzyme xanthine oxidase. This enzyme is responsible for breaking down the purine bases xanthine and hypoxanthine, which are found in certain foods. People with this disorder are unable to break down these purines, leading to an accumulation of xanthine and hypoxanthine in the body. Symptoms of xanthinuria type I include kidney stones, gout, and an increased risk of developing certain types of cancer.

The symptoms of Xanthinuria type I 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)
-High levels of xanthine in the urine

Xanthinuria type I 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.

The primary treatment for Xanthinuria type I 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. Supplementation with xanthine oxidase inhibitors, such as allopurinol, may also be recommended. Additionally, vitamin B6 supplementation may be beneficial.

The risk factors for Xanthinuria type I include:

1. Genetic predisposition: Xanthinuria type I is an inherited disorder caused by a mutation in the gene responsible for the production of the enzyme xanthine oxidase.

2. Age: Xanthinuria type I is more common in children and young adults.

3. Diet: A diet low in purines, which are found in some foods such as organ meats, can increase the risk of developing Xanthinuria type I.

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

There is no known cure for Xanthinuria type I, but medications may be used to help manage the symptoms. These medications may include vitamin B6, vitamin B12, and folic acid supplements, as well as medications to reduce the amount of xanthine in the body. Additionally, dietary changes may be recommended to reduce the amount of xanthine in the diet.