Genetic Basis & Biochemical Components of Lesch-Nyhan Syndrome

Lesch-Nyhan syndrome is characterized by hyperuricemia, choreoathetosis, dystonia, mental retardation, dysarthria, and compulsive biting of the lips and fingers. (Wong et al, 1996). It affects one in 400,000 to one in 100,000 live births. Although it affects only male children, women may be asymptomatic carriers and pass the mutation on to their offspring (Leipzig, 1999, 1755). Children with Lesch-Nyhan syndrome frequently injure themselves due to muscle spasms, and also show aggressive behavior toward themselves and others. The most dramatic feature of the syndrome is the biting of the lips, tongue, and fingers, which may cause serious injury. With time, the kidneys may be seriously injured as a result of excessive uric acid in the blood.

Genetically, Lesch-Nyhan syndrome is a rare and usually fatal x-linked recessive trait which affects males children. (http://www.my.webmd.com/content/c4_asset/merriam_webster_medical_dictionary_162213.) It is caused by a mutation in the gene for the enzyme hy

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