E79: Disorders of purine and pyrimidine metabolism
E79.1: Lesch-Nyhan syndrome
Many purines are contained in animal products and also in the cells. Among other things, these purines create genetic material. If you eat animal products or if cells in your body break down, purines are then converted or broken down. A large percentage of purines are re-used by the body. In the body, certain proteins ensure that processes run better or more quickly. These proteins are also known as enzymes. To digest purines, the body needs a specific enzyme. You do not have this enzyme. This condition is congenital, which means you were born with it. As a result, an increased amount of purines have been broken down into the waste product uric acid. You thus have too much uric acid in your blood.
If you have too much uric acid in your blood, small uric acid crystals can be formed. If these crystals are deposited in the joints, pain can occur. This is known as gout.
Furthermore, uric acid can damage the brain. In that case, you may not develop so well as a child. Sometimes you also tend to injure yourself. That is caused by the disease.
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