For all Genius in Science. Lets see if u can answer this???

Question

I was given a project in my Biology class about researching a rare disease. I am having problems finding all of the info about this disease if u know something please reply
disease: Lesch Nyan

Answer 1

you're probably having trouble cause it's called lesch nyhan disease. go ahead and google that and i'm sure you'll be able to do your own homework after that!

Answer 2

Lesch-Nyhan syndrome is a rare X-linked recessive disorder of purine metabolism, caused by complete absence of the enzyme hypoxanthine-guanine phosphoribosyl transferase. Persons affected with this incurable disease are developmentally and physically delayed, and suffer from self-injurious behavior. The most typical feature results in partial or total destruction of perioral tissues.

Answer 3

Helps if you spell it right.

Kelley-Seegmiller syndrome or Lesch-Nyhan syndrome

Check out the WebMD website for detailed information.

Answer 4

Genius project was given to you.

http://search.yahoo.com/search?p=Lesch+Nyan&fr=yfp-t-310&toggle=1&cop=mss&ei=UTF-8

Answer 5

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Answer 6

Lesch-Nyhan syndrome (LNS), also known as Nyhan’s syndrome, is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). LNS is an X-linked recessive disease: the gene is carried by the mother and passed on to her son. LNS is present at birth in baby boys. Patients have severe mental and physical problems throughout life. The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to problems such as severe gout, poor muscle control, and moderate mental retardation, which appear in the first year of life. A striking feature of LNS is self-mutilating behaviors, characterized by lip and finger biting, that begin in the second year of life. Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington's disease. The direct cause of the neurological abnormalities remains unknown. Because a lack of HGPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.[1]

The symptoms caused by the buildup of uric acid (arthritis and renal symptoms) respond well to treatment with drugs such as allopurinol that reduce the levels of uric acid in the blood. The mental deficits and self-mutilating behavior do not respond to treatment. There is no cure, but many patients live to adulthood. LNS is rare, affecting about one in 380,000 live births.[2] It was first described in 1964 by Dr. Michael Lesch and Dr. William Nyhan.[3]
[edit] Signs and symptoms
LNS is characterized by three major hallmarks: neurologic dysfunction, cognitive and behavioral disturbances, as well as uric acid overproduction (hyperuricemia). Damage to the basal ganglia causes victims to adopt a characteristic fencing stance due to the nature of the lesion. Some may also be afflicted with anemia (macrocytic). Virtually all patients are male, and male victims suffer delayed growth and puberty, and most develop shrunken testicles or testicular atrophy. Female carriers are at an increased risk for gouty arthritis, but are usually otherwise unaffected.


[edit] Overproduction of uric acid
One of the first symptoms of the disease is the presence of sand-like crystals of uric acid in the diapers of the affected infant. Overproduction of uric acid may lead to the development of uric acid crystals or stones in the kidneys, ureters, or bladder. Such crystals deposited in joints later in the disease may produce gout-like arthritis, with swelling

Answer 7

http://en.wikipedia.org/wiki/Lesch-Nyhan_syndrome

Answer 8

Baby boys, inherited, self mutilating behaviors, uric-acid build up, etc...just look it up.

Answer 9

http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm