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THE LESCH‐NYHAN SYNDROME
Author(s) -
Nyhan William L.
Publication year - 1978
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.1978.tb15228.x
Subject(s) - lesch–nyhan syndrome , citation , medicine , library science , computer science , hypoxanthine guanine phosphoribosyltransferase , biology , genetics , gene , mutant
Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones.