What is the forest-nyhan syndrome?

Lesch-nyhan syndrome is a genetic state characterized by the inability to produce an enzyme known as Hypoxanthin-Guanin phosphoribosyltransferase (HGPT). This condition is associated with X, it appears only in boys, although women who carry this condition can have some health problems. Like many other states that are of genetic nature, forest-nyhan is not cure syndrome, although the symptoms can be understood by the patient more comfortable. The lack of this enzyme creates the accumulation of uric acid, leading to neurological problems, joint pain and kidneys. The condition begins to manifest at birth, with patients experiencing developmental delays and physical handicaps. One of the most striking features of forechan syndrome is that it causes involuntary muscle cramps and reactions accompanied by self-service such as biting, chewing and scratching.

This condition was first described in 1964 by doctors Michael Lesch and William Nyhan. The affected gene was identified as a HPRT gene. The boys can exportinout forest-nyhan syndrome when their mothers are carriers or spontaneous mutations. As with other features associated with X, if the mother is a carrier, the child has a 50% chance to inherit the condition, because his mother may or may not pass the affected chromosome X. To have a woman-nyhan syndrome, her mother would have to be a carrier and her father would have to have a forest-nyhan syndrome; Although technically possible, it would be quite unusual.

Lesch-nyhan treatment is aimed at patient care because the condition is not treatable. Medicines can be used to reduce the accumulation of uric acid and to control problems associated with the condition. Most patients require supportive elegance, such as wheelchairs, as they grow up, and because the condition is accompanied by a physical deterioration, the life length of patients with forech-nyhan syndrome is usually lower than in healthy individuals.

Some bearers of forest-nyhan syndrome could later develop a gout in life, along with other conditions associated with a lipENCE uric acid, although their problems will be much less severe than their sons. When a child is diagnosed with a genetic condition, parents are usually recommended to be tested to see if they carry it, how to determine whether the child's condition is the result of mutation and to see if there is a risk of future children. With the help of genetic testing and fertilization in vitro, parents can also choose a selectively implant embryo if they decide to have children in the future.