1. 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

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.

2. 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

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3. 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

4. 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

5. 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

6. 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

Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Lesch-Nyhan Syndrome Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Lesch-Nyhan Syndrome NINDS Lesch-Nyhan Syndrome Information Page Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Lesch-Nyhan Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Lesch-Nyhan Syndrome? Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT Is there any treatment? 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?

7. 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

8. 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

Main Search Index Definition Description Causes ... Resources Lesch-Nyhan Syndrome Definition Lesch-Nyhan syndrome is a severe hereditary disorder that leads to physical and mental retardation , and is often associated with self-destructive biting of the hands and lips. Description 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.

9. 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

10. 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

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Lesch-Nyhan syndrome Contents of this page: Definition Causes, incidence, and risk factors Symptoms Signs and tests ... Prevention 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.

11. 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

12. 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

Home What's New Browse Handbook ... Search Lesch-Nyhan syndrome Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Lesch-Nyhan syndrome On this page: What is Lesch-Nyhan syndrome? How common is Lesch-Nyhan syndrome? ... help with understanding Lesch-Nyhan syndrome? What is Lesch-Nyhan syndrome? 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?

13. 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

14. 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

Home What's New Browse Handbook ... Search Lesch-Nyhan syndrome Back to condition summary Lesch-Nyhan syndrome NIH Publications - National Institutes of Health These resources supplement the information in the Genetics Home Reference condition summary on Lesch-Nyhan syndrome. Journal of the NIEHS: Dopamine Function in Lesch-Nyhan Disease NINDS Lesch-Nyhan Syndrome Information Page 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.

15. 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

16. 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

Home Symptoms Diseases Risks ... Diseases Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Lesch-Nyhan syndrome Next sections Basic Summary for Lesch-Nyhan syndrome Diagnostic Tests for Lesch-Nyhan syndrome Glossary for Lesch-Nyhan syndrome Next chapters: Cyclosporiasis Ehrlichiosis Encephalitis, California serogroup viral Eastern equine encephalitis ... Feedback Introduction: Lesch-Nyhan syndrome Contents for Lesch-Nyhan syndrome: Basic Summary for Lesch-Nyhan syndrome Diagnostic Tests for Lesch-Nyhan syndrome Glossary for Lesch-Nyhan syndrome 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

17. 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

18. 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

Home Symptoms Diseases Risks ... Lesch-Nyhan syndrome Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Lesch-Nyhan syndrome Next sections Diagnostic Tests for Lesch-Nyhan syndrome Glossary for Lesch-Nyhan syndrome Next chapters: Cyclosporiasis Ehrlichiosis Encephalitis, California serogroup viral Eastern equine encephalitis ... Feedback Basic Summary for Lesch-Nyhan syndrome Main name of condition: Lesch-Nyhan syndrome What is Lesch-Nyhan syndrome? Parent types of Lesch-Nyhan syndrome: Genetic Disease What causes Lesch-Nyhan syndrome? Class of Condition for Lesch-Nyhan syndrome: genetic Can anyone else get Lesch-Nyhan syndrome? Contagion of genetic conditions: generally not; see details in contagion of genetic diseases Inheritance of genetic conditions: see details in inheritance of genetic diseases 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

19. 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

20. 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

Disorder Zone Archives Lesch-Nyhan Syndrome 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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