Disorders of purine metabolism are caused by genetic mutations that lead to a disruption in normal purine metabolism. These mutations can be inherited from one or both parents, or can be caused by environmental factors such as exposure to certain medications, toxins, or radiation.
Diagnosis of disorders of purine metabolism is usually made through biochemical tests and genetic testing. These tests measure levels of purines and their metabolites in the blood or urine, as well as looking for genetic mutations that could indicate a disorder of purine metabolism.
The differential diagnosis of disorders of purine metabolism includes other metabolic disorders such as gout, Lesch-Nyhan Syndrome, and familial hyperuricemia. It can also include other conditions such as renal insufficiency, diabetes, and liver disease.
Treatment of disorders of purine metabolism depends on the specific disorder and the individual patient. Treatment may include lifestyle modifications such as dietary changes, exercise, and weight management; medications such as allopurinol and probenecid; and, in some cases, surgery.
The prognosis for disorders of purine metabolism varies depending on the specific disorder and the individual patient. In general, the prognosis is good with early diagnosis and effective treatment. However, some disorders may be associated with chronic health problems and disability.