Inborn errors of purine-pyrimidine metabolism

Gout ( ), also called rheumatic gout, is a form of inflammatory arthritis characterized by recurrent attacks of pain in a red, tender, hot, and swollen joint, caused by the deposition of needle-shaped crystals of the monosodium salt of uric acid. Pain typically comes on rapidly, reaching maximal intensity in less than 12 hours. In about half of cases, the joint at the base of the big toe is affected (Podagra). It may also result in tophi, kidney stones, or kidney damage.

Hyperuricaemia or hyperuricemia is an abnormally high level of uric acid in the blood. In the pH conditions of body fluid, uric acid exists largely as urate, the ion form. Serum uric acid concentrations greater than 6 mg/dL for females, 7 mg/dL for males, and 5.5 mg/dL for youth (under 18 years old) are defined as hyperuricemia. The amount of urate in the body depends on the balance between the amount of purines eaten in food, the amount of urate synthesised within the body (e.g., through cell turnover), and the amount of urate that is excreted in urine or through the gastrointe

rare genetic syndrome

severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP

Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase.

pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine

Human disease