Hereditary hyperuricemia

Hereditary hyperuricemia is a recessive genetic disorder of the X chromosome. It was first reported by Lesch and Nyban (1964) that there was a dance-like involuntary movement and a significant increase in uric acid. Uric acid is the final product of purine metabolism. Purines and pyrimidines are important raw materials for synthesizing DNA (deoxyribonucleic acid) and RNA (ribonucleic acid) of life genetic material. The uric acid produced by purines through oxidative metabolism is mainly excreted by the kidneys and intestines. The daily production and excretion of uric acid maintain a certain balance in the body. If overproduction or poor excretion will cause uric acid to accumulate in the body, causing blood uric acid Too high (ie hyperuricemia). Hereditary hyperuricemia is due to a genetic mutation that causes the enzymes of purine metabolism in children, namely hypoxanthine-guanine phosphoribosyltransferase activity, to be partially or completely lacking, which in turn leads to accelerated purine renewal metabolism and hyperuricemia.

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