Lesch Nyhan Syndrome :: essays research papers

Lesch Nyhan SyndromeLesch Nyhan Syndrome (LNS) was first reported in 1964 by Michael Lesch and William L. Nyhan. It is a rare pain located on the x chromosome. It is a sex-linked trait, which means that it is passed from mother to son. This condition discount be inherited or occur spontaneously as a result of a genetic mutation. It usually appears once in every 100,000 male births. Since the defective gene is recessive, females almost never exhibit symptoms of the disease. However, they can be carriers of the allele. Lesch Nyhan is associated with an almost complete absence of the enzyme HGPRTase (hypoxanthene guanine phosphoribosil transferase). This is the enzyme that recycles hypoxanthen and guanine, which are two of the genetic building blocks. When this enzyme is not present, the hypoxanthen and guanine are converted into excessive uric acid. Children around four to six months old are usually diagnosed with LND when orange, sand like uric acid crystals are observed in their diapers. These crystals cause afflictive urination, arthritis and kidney stones as they build up in various areas of the body. LNS had many symptoms. Affected people manifest developmental delays, seizures, spacticiy, speech impairment and moderate retardation. The victims usually course within a 40-80 IQ range. By four years of age the children usually start to exhibit the most well-known symptom of Lesch Nyhan self-mutilization. The patients begin practicing corporeal mutilization and hurting themselves through indirect emotional injuries. These behaviors seem to grow as the children get older and become more physically capable of inflicting self-injury and more mentally capable of thinking up new ways to hurt themselves. Early forms of self-mutilization include biting of the tongue and cheeks, gouging the nose and eyes, rubbing various body split raw, and banging the head, arms, and legs on things. Another realm of abnormal behavior associated with LNS is manifested as indire ct or emotional self-injury. Individuals with these symptoms are compelled to hurt and abuse themselves and the people they cope for most. They lash out at parents, teachers and aides. A few examples of this behavior include kicking and head butting as they are being dressed or bathed, ban without provocation, spitting, vomiting or spilling drinks on care providers. After performing these behaviors, the individual will apologize profusely, only to repeat the offending behavior shortly thereafter.Scientists possess come to recognize this behavior as indirect attempts of self-injury.