Sindromul Lesch Nyhan

Signs and symptoms may include inflammatory arthritis gout kidney stones bladder stones and moderate cognitive disability.

Sindromul lesch nyhan. Lesch nyhan syndrome is a rare inherited disorder in which there are high levels of uric acid. Lesch nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. Sindromul lesch nyhan este cauzat de defectul unei gene specifice de pe cromozomul x cea responsabilă cu producerea enzimei hipoxantin guanin fosforibozil transferaza hprt. It occurs almost exclusively in males.

This deficiency occurs due to mutations in the hprt1 gene located on the x chromosome. Mutațiile suferite de gena hprt sunt variate fiind documentate peste 400 de erori de tipul delețiilor inserțiilor substituțiilor sau translocațiilor. Lesch nyhan syndrome is a rare inborn error of purine metabolism characterized by the absence or deficiency of the activity of the enzyme hypoxanthine guanine phosphoribosyltransferase hprt. Lesch nyhan syndrome lns is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine guanine phosphoribosyltransferase hgprt.