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Genetic Basis & Biochemical Components of Lesch-Nyhan Syndrome

Lesch-Nyhan Syndrome is an inborn metabolic error caused by an enzyme deficiency which results in neurological, renal, and rheumatological problems. This paper will look at its genetic basis, the biochemical components of the syndrome, its pathophysiology, the role of genetic and biochemical knowledge and technology in the diagnosis, prognosis, and treatment of the disorder, as well as the current status and projected future directions research into the syndrome will take.

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. ( It is caused by a mutation in the gene for the enzyme hypoxanthine-guanine phosphoribosyltranferase (HPRT), which catalyzes a reaction which is necessary to prevent the buildup of uric acid in the blood (Leipzig, 1999), and is located on chromosome number Xq26. Mutation of the gene leads to an absence of enzyme activity which, in turn, leads to markedly elevated blood uric acid levels (hyperuricemia), causing urinary tract stones, and has a severe impact on brain development. Gout is caused by a less-damaging muta...

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Genetic Basis & Biochemical Components of Lesch-Nyhan Syndrome. (1969, December 31). In Retrieved 22:23, November 30, 2021, from