Lesch Nyhan Syndrome

Nhyan syndrome also known as Lesch-Nyhan syndrome (LNS) and juvenile gout is an inherited rare disorder. Lesch-Nyhan syndrome is caused by an inefficient amount of enzyme hypoaxantine-guanine phosphoribosyltransferase (HGPRT) caused by mutations in the HPRT gene which is located on the X chromosome. LNS was clinically characterized and first recognized by pediatrician William Nyhan and medical student Michael Lesch, their findings were published in 1964. The HGPRT deficiency results in an accumulation

Lesch-Nyhan syndrome is a rare condition that affects boys at a young age and approximately 1 in every 380,000 births. Boys with this disease get kidney stones, develop uncontrollable urges to hurt themselves and cannot control their muscles. Lesch-Nyhan syndrome was first discovered by Michael Lesch and William Nyhan in 1964 and shortly after, it was found that this disease was an X-linked genetic disorder which means that it is inherited from the mother. It wasn’t until 1985 that scientists discovered

Lesch-Nyhan Syndrome, otherwise called Nyhan’s syndrome, hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency or juvenile gout, is a rare hereditary disorder that affects almost exclusively males at a very young age. Thereby, they develop neurological and behavioral abnormalities-physical handicaps, mental retardation and abnormal involuntary muscle movements- and the overproduction of uric acid. This paper will outline the Lesch-Nyhan syndromes genetic and metabolic components, symptoms

For my summer reading assignment I chose to read “ Panic In Level 4: Cannibals, Killer Viruses, and Other Journeys to the Edge of Science” written by Richard Preston. The book is composed of several articles written by Preston in The New Yorker. It explores new frontiers in science and the people who continue to expand them from genetic entrepreneur Craig Venter to a pair of Russian immigrants who built, from mail-order catalogs, a supercomputer in their New York apartment to search for patterns

krabbe disease and hurler syndrome, which have been known to cause weight loss, seizures, and frequent body pain. These medical conditions can be life-threatening. Cord blood can be used as a treatment option for patients with other metabolic disorders as well, such as sly syndrome, tay sachs, niemann-pick disease, and lesch-nyhan syndrome, among many other conditions. 4. Immune Disorders Cord blood can also be used to treat immune disorders such as myelokathexis and evans syndrome that cause the body

There are approximately more than 4,200 diseases that come from abnormalities in the human genes and also from the genetic makeup of a person (Gene Therapy). Many of these diseases can dexterously be treated and prevented. They can be averted through a newer development called gene therapy. Gene therapy is a type of genetic alteration that attempts to either cure or treat an ailment. Genes contain the DNA of a human being. Genes control physical traits such as height, eye color and skin tone,

self-injuries by excluding acts of self-mutilation that result from intoxication, withdrawal symptoms, psychotic episodes, trichotillomania, or stereotypical self-harm (in the case of autism spectrum disorders, low intellectual functioning, or Lesch-Nyhan

Function in the body Adenosine primarily acts in the central nervous system. It promotes sleep in the evening and assists the brain to wake up in the morning. The concentration of adenosine is highest in the brain during waking hours and it builds up the longer a person is awake. Since the ATP reserves are depleted and stored in the brain, it results in the buildup of adenosine in the brain. When a person is asleep, adenosine is metabolized by adenosine deaminase, which results in a decreased concentration

Uric Acid stones precipitate under these circumstances increased urinary uric acid concentration secondary to overproduction, increased renal tubular uric acid secretion, decrease renal tubular uric acid reabsorption, decrease in the urinary volume or increased hydrogen ion concentration. Some causes include purine enzyme defects, leading to overproduction and increased uric acid concentration in the urine for example, HGPRT deficiency, PRPP synthetase overactivity and G6P deficiency. Other causes

Le Voong In today’s technology parents are able to know the gender of their child before giving birth. However advanced technology is now available for parents to be able to choose the child’s gender before even being implanted in the mother’s womb. Prenatal sex selection is considered one of the major controversial and unethical practices in today’s society. Others favor gender selection because it can be used for preventing genetic disorders and family balancing. Some argued that choosing the