Lesch-Nyhan syndrome is a genetic condition that affects only boys and causes a buildup of uric acid, leading to neurological problems, joint pain, and kidney problems. Patients experience developmental delays and physical handicaps, as well as involuntary muscle spasms and self-mutilation. Treatment focuses on patient care, and carriers may develop gout later in life. Parents are encouraged to get tested to determine if they carry the condition and can choose to have embryos selectively implanted.
Lesch-Nyhan syndrome is a genetic condition characterized by the inability to produce an enzyme known as hypoxanthine-guanine phosphoribosyltransferase (HGPT). This condition is X-linked and only appears in boys, although women who carry the condition may have some health problems. Like many other genetic conditions, Lesch-Nyhan syndrome is not curable, although symptoms can be managed to make the patient more comfortable.
The HGPT enzyme is responsible for catalyzing a reaction that breaks down uric acid in the body. The lack of this enzyme creates a buildup of uric acid, which leads to neurological problems, joint pain and kidney problems. The condition begins to manifest itself at birth, with patients experiencing developmental delays and physical handicaps. One of the most distinctive features of Lesch-Nyhan syndrome is that it causes involuntary muscle spasms and reactions accompanied by self-mutilation such as biting, chewing, and scratching.
This condition was first described in 1964 by physicians Michael Lesch and William Nyhan. The affected gene has been identified as the HPRT gene. Males can develop Lesch-Nyhan syndrome when their mothers are carriers or by spontaneous mutation. As with other X-linked traits in boys, if a mother is a carrier, the child has a 50 percent chance of inheriting the condition, because his mother may or may not pass on the affected X chromosome. For a woman to have Lesch-Nyhan syndrome, her mother must be a carrier and her father must have Lesch-Nyhan syndrome; while this is technically possible, it would be quite unusual.
Treatment for Lesch-Nyhan syndrome focuses on patient care, as the condition is not curable. Medications can be used to reduce uric acid buildup and to help manage behavior problems associated with the condition. Most patients require supportive equipment such as wheelchairs as they grow, and because the condition is accompanied by physical deterioration, life expectancy for patients with Lesch-Nyhan syndrome is usually shorter than that of healthy individuals.
Some carriers of Lesch-Nyhan syndrome may develop gout later in life, along with other conditions associated with uric acid retention, although their problems will be much less severe than those of their children. When a child is diagnosed with a genetic condition, parents are generally encouraged to get tested to see if they carry it, both to determine if the child’s condition is the result of a mutation, and to see whether or not there is a risk. for children to have the condition. With the assistance of genetic testing and IVF, parents can also choose to have embryos selectively implanted, should they decide to have children in the future.
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