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Lesch-nyhan Syndrome: more detail

Lesch Nyhan Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-10-21
The Official Parent's Sourcebook on Lesch-nyhan Syndrome: Directory for the Internet Age by Icon Health Publications, 2005-01-31
Lesch?Nyhan Syndrome: Genetic disorder, Enzyme, Hypoxanthine- guanine phosphoribosyltransferase, Mutation, Gene, Uric acid, Hyperuricemia, Hyperuricosuria, ... Self- injury, Huntington's disease
Gale Encyclopedia of Medicine: Lesch-Nyhan syndrome by Holly Ann Ishmael M.S., 2002-01-01
Lesch-Nyhan Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18
Lesch-Nyhan Syndrome Medical Guide by Qontro Medical Guides, 2008-07-09
Lesch-Nyhan syndrome: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Holly, MS, CGC Ishmael, 2005
Lesch-Nyhan syndrome: An entry from Thomson Gale's Gale Encyclopedia of Neurological Disorders by Holly, MS, CGC Ishmael, Rosalyn, MD Carson-DeWitt, 2005
Lesch-Nyhan Syndrome: An entry from Gale's Gale Encyclopedia of Medicine, 3rd ed. by Holly, M.S. Ishmael, Rebecca, PhD Frey, 2006
Assessment of substance-p-like immunoreactivity in the Substantia Nigra of 6-hydroxydopamine-lesioned rats: Implications for self-injurious behavior in an animal model of the Lesch-Nyhan syndrome by Christina Ohana Pinto Chiareli, 1991

lists with details

EMedicine - Lesch-Nyhan Syndrome : Article By Hyder A Jinnah, MD, PhD
leschnyhan syndrome - Michael Lesch and William Nyhan provided the first detailedclinical description of lesch-nyhan syndrome in 1964.
http://www.emedicine.com/neuro/topic630.htm

Extractions: AUTHOR INFORMATION Author: Hyder A Jinnah, MD, PhD , Assistant Professor, Neurology, Johns Hopkins University Hospital Hyder A Jinnah, MD, PhD, is a member of the following medical societies: Maine Medical Association Editor(s): Robert Baumann, MD , Program Director, Professor, Departments of Neurology and Pediatrics, University of Kentucky; Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, eMedicine; Kenneth J Mack, MD, PhD , Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic; Selim R Benbadis, MD , Director of Comprehensive Epilepsy Program, Professor, Departments of Neurology and Neurosurgery, University of South Florida, Tampa General Hospital; and Nicholas Lorenzo, MD , Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants INTRODUCTION Background: Michael Lesch and William Nyhan provided the first detailed clinical description of Lesch-Nyhan syndrome in 1964. The enzymatic defect associated with Lesch-Nyhan syndrome, deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT), was discovered by Seegmiller and colleagues in 1967. The gene encoding the enzyme was cloned and sequenced by Friedmann and colleagues in 1985. Lesch-Nyhan syndrome is a genetic disorder associated with 3 major clinical elements. These elements include overproduction of uric acid, neurological disability, and behavioral problems. The overproduction of uric acid is associated with hyperuricemia. If left untreated, it can produce nephrolithiasis with renal failure, gouty arthritis, and solid subcutaneous deposits known as tophi. The neurological disability encompasses a spectrum of extrapyramidal signs, including dystonia, choreoathetosis, and occasionally ballismus. Some patients also develop pyramidal signs, such as spasticity and hyperreflexia. The behavioral problems include cognitive dysfunction and aggressive and impulsive behaviors. Nearly all patients also develop persistent and severe self-injurious behavior.
NINDS Forwarding Page
Information sheet compiled by the National Institute of Neurological Disorders and Stroke.
http://www.ninds.nih.gov/health_and_medical/disorders/lesch_doc.htm

Extractions: NINDS has redesigned its website and the URL for the page you were seeking has changed. The new URL for this page is /disorders/lesch_nyhan/lesch_nyhan.htm . Please update your bookmark to this page. You will be automatically taken to this page in 5 seconds, or you can click the link to go there now.
Lesch-Nyhan Syndrome Information Page National Institute Of
leschnyhan syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
GeneReviews: Lesch-Nyhan Syndrome
Your browser does not support HTML frames so you must view leschnyhan syndromein a slightly less readable form. Please follow this link to do so.
http://www.genetests.org/query?dz=lns
Lesch-Nyhan Disease
Lesch Nyhan Syndrome. ED277197 EC191704 The Use of Biofeedback in Treating the SelfMutilative Behaviors of a Child with lesch-nyhan syndrome
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Lesch-Nyhan Syndrome Information Page: National Institute Of Neurological Disord
leschnyhan syndrome information sheet compiled by the National Institute ofNeurological Disorders and Stroke (NINDS).
http://www.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm

Extractions: Treatment for LNS is symptomatic. Gout can be treated with allopurinol to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams. There is no standard treatment for the neurological symptoms of LNS. Some may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol. What is the prognosis?
Lesch Nyhan Syndrome
Lesch Nyhan Syndrome (KelleySeegmiller syndrome) Genetics research lesch-nyhan syndrome. Short description of cell lines.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Lesch-Nyhan Syndrome
CHC Wausau Hospital s Medical Library and Patient Education Center providesresearch services and healthcare information to physicians,
http://www.chclibrary.org/micromed/00054660.html

Extractions: Lesch-Nyhan syndrome affects 1 in 400,000 live births. Only male children are affected, but women can be asymptomatic carriers and pass the mutation on to their offspring. Children with Lesch-Nyhan frequently injure themselves due to muscle spasms. They also show aggressiveness toward themselves and others. The most dramatic symptom of Lesch-Nyhan syndrome is the compulsive biting of the lips, tongue, and finger tips which can lead to serious injury and scarring. Over time, serious injury to the kidneys may develop as a result of the excessive uric acid in the blood. Lesch-Nyhan is caused by a mutation in the gene for the enzyme named hypoxanthine-guanine phosphoribosyltransferase (HPRT). HPRT catalyzes a reaction which is necessary to prevent the buildup of uric acid. Mutation in the HPRT gene leads to an absence of enzyme activity which, in turn, leads to markedly elevated uric acid levels in the blood (hyperuricemia) with further consequences that include urinary tract stones and severe developmental impact on the brain. The disease known as gout is caused by a less damaging mutation in the same gene, leading to reducedbut not eliminatedHPRT activity.
Special Child Disorder Zone Archives - Lesch-Nyhan Syndrome
leschnyhan syndrome (LNS) is a rare genetic disorder characterized by an overproduction of uric acid, neurological disability, and behavioral
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
MedlinePlus Medical Encyclopedia: Lesch-Nyhan Syndrome
leschnyhan syndrome is an inheritable disorder that affects how the body buildsand breaks down lesch-nyhan syndrome is inherited as an X-linked trait.
http://www.nlm.nih.gov/medlineplus/ency/article/001655.htm

Extractions: @import url(/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Definition Lesch-Nyhan syndrome is an inheritable disorder that affects how the body builds and breaks down purines. Purines are units in RNA and DNA, which make up the body's genetic blueprint. Causes, incidence, and risk factors Lesch-Nyhan syndrome is inherited as an X-linked trait . Therefore, the disease is seen mainly in males. It is characterized by increased blood and uric acid levels and by the absence of the enzyme hypoxanthine guanine phosphoribosyltransferase (HGP). Males with Lesch-Nyhan have delayed motor development followed by bizarre, sinuous movements and increased deep tendon reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior characterized by chewing off fingertips and lips, if not restrained. The excess uric acid levels cause children to develop gout-like swelling in some of their joints. In some cases, renal dysfunction develops because of the excess uric acid levels.
Lesch-Nyhan Syndrome
leschnyhan syndrome is a rare, genetic disorder characterized by self-mutilating behaviors such as lip and finger biting and/or head banging.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Lesch-Nyhan Syndrome - Genetics Home Reference
Where can I find additional information about leschnyhan syndrome? Lesch-Nyhansyndrome is a condition characterized by the overproduction of uric acid
http://ghr.nlm.nih.gov/condition=leschnyhansyndrome

Extractions: Home What's New Browse Handbook ... Search Lesch-Nyhan syndrome On this page: Lesch-Nyhan syndrome is a condition characterized by the overproduction of uric acid, a nitrogen-containing compound found in urine. Problems with the nervous system and behavioral disturbances are characteristic of this disorder. The overproduction of uric acid can cause gouty arthritis (arthritis caused by uric acid in the joints), as well as kidney and bladder stones. Abnormal involuntary muscle movements such as flexing, jerking, flinging, and flailing are often displayed. Self-injury through biting and head banging is the most common behavioral problem in Lesch-Nyhan patients. How common is Lesch-Nyhan syndrome?
MedlinePlus Medical Encyclopedia Lesch-Nyhan Syndrome
leschnyhan syndrome Contents of this page Definition. Causes, incidence, and risk factors. Symptoms. Signs and tests. Treatment
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Lesch-Nyhan Syndrome - NIH Publications - National Institutes Of Health - Geneti
leads to a site outside Genetics Home Reference. NINDS leschnyhan syndromeInformation Page This link leads to a site outside Genetics Home Reference.
http://ghr.nlm.nih.gov/condition=leschnyhansyndrome/show/NIH Publications

Extractions: Home What's New Browse Handbook ... Search Lesch-Nyhan syndrome These resources supplement the information in the Genetics Home Reference condition summary on Lesch-Nyhan syndrome. Last Comprehensive Review: April 2005 Published: September 6, 2005 Contact NLM Customer Service Lister Hill National Center for Biomedical Communications ... Selection Criteria for Web Links Indicates a page outside Genetics Home Reference.
Short Description Of Cell Lines. Pathology Lesch-Nyhan Syndrome
Short description of cell lines. Pathology leschnyhan syndrome *308000 OMIM record
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Introduction: Lesch-Nyhan Syndrome - WrongDiagnosis.com
Introduction to leschnyhan syndrome as a medical condition including symptoms,diagnosis, misdiagnosis, treatment, prevention, and prognosis.
http://www.wrongdiagnosis.com/l/lesch_nyhan_syndrome/intro.htm

Extractions: Diseases Did we miss something? Please provide feedback or suggestions By using this site you agree to our . Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our IMPORTANT! Use of this site is subject to our
Lesch-Nyhan Syndrome - Genetics Home Reference
leschnyhan syndrome. On this page What is lesch-nyhan syndrome? How common is lesch-nyhan syndrome?
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Basic Summary For Lesch-Nyhan Syndrome - WrongDiagnosis.com
Overview of leschnyhan syndrome as a medical condition including introduction,prevalence, prognosis, profile, symptoms, diagnosis, misdiagnosis,
http://www.wrongdiagnosis.com/l/lesch_nyhan_syndrome/basics.htm

Extractions: Diseases Lesch-Nyhan syndrome Did we miss something? Please provide feedback or suggestions By using this site you agree to our . Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our
Introduction Lesch-Nyhan Syndrome - WrongDiagnosis.com
Introduction to leschnyhan syndrome as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Special Child: Disorder Zone Archives - Lesch-Nyhan Syndrome
leschnyhan syndrome (LNS) is a rare genetic disorder characterized by anoverproduction Ernie was diagnosed with Lesch Nyhan syndrome 16 1/2 years ago.
http://www.specialchild.com/archives/dz-031.html

Extractions: Ernie Burford Introduction LNS is caused by a mutation in the HPRT gene on the X-chromosome, resulting in a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). HPRT is involved in the recycling of purines. When the body is unable to recycle these purines, there is a dramatic overproduction of uric acid, which then leads to hyperuricemia. Hyperuricemia can result in gouty arthritis, tophi (lumpy deposits of uric acid crystals just under the skin) and kidney stones. LNS has been reported to occur in 1 out of every 100,000 live births. It is estimated that there are only several hundred individuals with the disorder in the United States. LNS has been found equally among all races and ethnic groups, however as an X-linked disorder, nearly all cases are male. LNS can either be inherited or it can occur as a spontaneous (or new) mutation. LNS was first described by Michael Lesch, M.D. and William Nyhan, M.D., Ph.D. in 1964 when they reported two affected brothers. The enzymatic defect was discovered by Seegmiller and colleagues in 1967. Finally, the gene responsible for LNS was cloned and sequenced by Friedmann and colleagues in 1985. Features and Characteristics The following characteristics have been identified in individuals with LNS: Hyperuricemia (overproduction of uric acid) Urate crystal formation (orange, crystal-like deposits found in the urine, caused by the overproduction of uric acid)

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