1. Genetics Research: Lesch-Nyhan Syndrome leschnyhan syndrome. Principal Investigator Pragna I. Patel, Ph.D. X-linked recessive disorder; About 1 in 100,000 males affected; http://www.bcm.tmc.edu/neurol/research/genes/genes8.html

Lesch-Nyhan Syndrome Principal Investigator: Pragna I. Patel, Ph.D. X-linked recessive disorder About 1 in 100,000 males affected Caused by a deficiency of hypoxanthine phosphoribosyltransferase transferase (HPRT) which is involved in the metabolic salvage of purines Symptoms include mental retardation, choreoathetosis, hyperuricemia and compulsive self-mutilation Our research is aimed at understanding how the human HPRT gene is regulated using in vitro and in vivo approaches. The hierarchy of regulatory elements and proteins specifying neuronal versus constitutive expression of the gene are being studied and will provide insight into the pathophysiology of LNS and allow design of DNA-based therapies. Click on picture for larger view Selected References: Rincon-Limas, D.E., Amaya-Manzanares, F., Nino-Rosales, M.L., Yu, Y-J., Yang, T.P., and Patel, P.I. Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human HPRT gene. Mol. Cell Biol., 15:6561-6571, 1995. Rincon-Limas, D., Geske, R., Xue, J-J., Hsu, C.Y., Overbeek, P.A., and Patel, P.I. 5'-flanking sequences of the human HPRT gene direct neuronal expression in the brain of transgenic mice. J. Neurosci. Res., 38:259-267, 1994.

2. NINDS Lesch-Nyhan Syndrome Information Page More about leschnyhan syndrome, Studies with patients, Research literature, Press releases, NINDS lesch-nyhan syndrome Information Page Reviewed 07-01-2001 http://www.ninds.nih.gov/health_and_medical/disorders/lesch_doc.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations 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 NINDS Lesch-Nyhan Syndrome Information Page Reviewed 07-01-2001 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? Is there any treatment? Treatment for LNS is symptomatic. The drug allopurinol may be used to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy. There is no standard treatment for the neurological symptoms of LNS. Some symptoms may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol. What is the prognosis?

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

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Pediatric Neurology Lesch-Nyhan Syndrome Last Updated: January 25, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: HPRT deficiency, Kelley-Seegmiller syndrome, Lesch-Nyhan disease AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography 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, Pharmacy, eMedicine; Kenneth J Mack, MD, PhD , Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic; Selim R Benbadis, MD

4. Lesch Nyhan Syndrome Nyhan Syndrome. Genetics research leschnyhan syndrome. Short description of cell lines. Pathology lesch-nyhan syndrome. Lesch-Nyhan, syndrome sites francophones http://www.bdid.com/lesch.htm

HOME Lesch Nyhan Syndrome (Kelley-Seegmiller syndrome) Genetics research: Lesch-Nyhan syndrome Short description of cell lines. Pathology: Lesch-Nyhan syndrome Lesch-Nyhan, syndrome : sites francophones Lesch-Nyhan information sheet ... HOME

5. Lesch-Nyhan Syndrome The Tyler Medical Clinic. Assisted Conception Affordable Infertility Treatments - List of Diseases - lesch-nyhan syndrome lesch-nyhan syndrome. lesch-nyhan syndrome is a rare X-linked recessive http://www.tylermedicalclinic.com/lesch-nyhan syndrome.htm

The Tyler Medical Clinic Assisted Conception - Affordable Infertility Treatments - List of Diseases - Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome is a rare X-linked recessive disorder affecting approximately 1 out of 400,000 males. It is characterized by excessive levels of uric acid in the blood, which may eventually lead to kidney damage. Its symptoms include muscle spasms that cause jerky movements, and self-injurious behavior such as compulsive biting of lips and tongue. The pathology for these symptoms is not clearly understood. Lesch-Nyhan Syndrome may also lead to physical and mental retardation as well as Nephrolithiasis , urinary tract stones and may impact brain development. Symptoms of Lesch-Nyhan Syndrome usually present themselves early in infancy. Sand-like crystals appear in diapers of infants. Infants affected with Lesch-Nyhan Syndrome may also seem unusually irritable and unable to lift his or her head at age 4-6 months. They may also display uncontrolled writhing motions and have poor motor development. There is currently no cure for Lesch-Nyhan Syndrome. Treatments include medication to lower uric acid levels in the blood. Patients must closely monitor their fluid intake to ensure that they are well hydrated. Parents with children inflicted with Lesch-Nyhan Syndrome must take special precautions in their household, such as padding any sharp corners, to prevent further injury when their children uncontrollably engage in self-destructive behavior.

6. MedlinePlus Medical Encyclopedia: Lesch-Nyhan Syndrome leschnyhan syndrome is inherited as an X-linked trait, therefore the disease is seen only in A striking feature of lesch-nyhan syndrome is self-destructive behavior characterized http://www.nlm.nih.gov/medlineplus/ency/article/001655.htm

@import url(http://www.nlm.nih.gov/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 purine metabolism . This affects how the body uses RNA and DNA, the proteins that make up the genetic blueprint and determine which proteins are produced for use in cellular processes. Causes, incidence, and risk factors Lesch-Nyhan syndrome is inherited as an X-linked trait , therefore the disease is seen only 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.

7. Special Child: Disorder Zone Archives - Lesch-Nyhan Syndrome Disorder Zone. Archives. leschnyhan syndrome. Ernie Burford. Introduction. lesch-nyhan syndrome (LNS) is a rare genetic disorder characterized by an overproduction of uric acid, neurological disability, and behavioral problems. 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)

8. Lesch-Nyhan Syndrome Information Diseases Database leschnyhan syndrome Hypoxanthine-guanine phosphoribosyltranferase deficiency, Disease Database Information Sponsors Contact Previous Page. lesch-nyhan syndrome Information. Lesch-Nyhan http://www.diseasesdatabase.com/ddb7415.htm

Diseases Database Index Sponsors Contact ... Previous Page Lesch-Nyhan syndrome Information Search 2 synonyms or equivalents were found. Lesch-Nyhan syndrome aka/or Hypoxanthine-guanine phosphoribosyltranferase deficiency may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) Lesch-Nyhan syndrome: Definition(s) via UMLS Code translations and terms via UMLS Lesch-Nyhan syndrome: specific sites Send Lesch-Nyhan syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-02 23:41:53 Metadata Updated 2004-05-22

9. EMedicine - Lesch-Nyhan Syndrome : Article Excerpt By: Hyder A Jinnah, MD, PhD eMedicine World Medical Library. (advertisement). Excerpt from leschnyhan syndrome. Please click here to view the full topic text lesch-nyhan syndrome. http://www.emedicine.com/neuro/byname/lesch-nyhan-syndrome.htm

(advertisement) Excerpt from Lesch-Nyhan Syndrome Synonyms, Key Words, and Related Terms: HPRT deficiency, Kelley-Seegmiller syndrome, Lesch-Nyhan disease Please click here to view the full topic text: Lesch-Nyhan Syndrome 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. Treatment of the condition is limited. Allopurinol is useful to control the overproduction of uric acid and reduces the risk of nephrolithiasis and gouty arthritis. Few treatments have proved consistently helpful for the neurological or behavioral difficulties. Spasticity is managed with a combination of baclofen and benzodiazepines, while the behavioral abnormalities are best managed by a combination of behavioral modification techniques and medications.

10. Lesch-Nyhan Syndrome MAIN SEARCH INDEX. leschnyhan syndrome. Definition. lesch-nyhan syndrome is a rare genetic disorder that affects males. Males with http://www.ehendrick.org/healthy/000821.htm

MAIN SEARCH INDEX Lesch-Nyhan syndrome Definition Description Causes and symptoms Diagnosis ... Resources Definition Lesch-Nyhan syndrome is a rare genetic disorder that affects males. Males with this syndrome develop physical handicaps, mental retardation , and kidney problems. It is caused by a total absence of an enzyme. Self injury is a classic feature of this genetic disease. Description Lesch-Nyhan syndrome was first described in 1964 by Dr. Michael Lesch and Dr. William Nyhan. The syndrome is caused by a severe change (mutation) in the HPRT gene. This gene is responsible for the production the enzyme called hypoxanthine-guanine phosphoribosyltransferase(HPRT). HPRT catalyzes a reaction that is necessary to prevent the buildup of uric acid. A severe mutation in the HPRT gene leads to an absence of HPRT enzyme activity which, in turn, leads to markedly elevated uric acid levels in the blood(hyperuricemia). This buildup of uric acid is toxic to the body and is related to the symptoms associated with the disease. Absence of the HPRT enzyme activity is also thought to alter the chemistry of certain parts of the brain, such as the basal ganglia, affecting neurotransmitters (chemicals used for communication between nerve cells), acids, and other chemicals. This change in the nervous system is also related to the symptoms associated with Lesch-Nyhan syndrome. Males with Lesch-Nyhan syndrome develop neurologic problems during infancy. Infants with Lesch-Nyhan syndrome have weak muscle tone (hypotonia) and are unable to develop normally. Affected males develop uncontrollable writhing movements (athetosis) and muscle stiffness (spasticity) over time. Lack of speech is also a common feature of Lesch-Nyhan syndrome. The most dramatic symptom of Lesch-Nyhan syndrome is the compulsive self-injury seen in 85% of affected males. This self injury involves the biting of their own lips, tongue, and finger tips, as well as head banging. This behavior leads to serious injury and scarring.

11. GeneReviews: Lesch-Nyhan Syndrome Your browser does not support HTML frames so you must view leschnyhan syndrome in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/lns/

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12. HONselect - Lesch-Nyhan Syndrome English leschnyhan syndrome, - Choreoathetosis Self-Mutilation Hyperuricemia Syndrome - Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease - Complete http://www.hon.ch/HONselect/RareDiseases/C10.228.140.163.474.430.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Lesch-Nyhan Syndrome - Choreoathetosis Self-Mutilation Hyperuricemia Syndrome - Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease - Complete HGPRT Deficiency Disease - Deficiency Disease, Complete HGPRT - Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase - HGPRT Deficiency Disease, Complete Français: LESCH NYHAN, SYNDROME Deutsch: Lesch-Nyhan-Syndrom - Hypoxanthin-Phosphoribosyltransferase - Choreoathetose mit Selbstbeschädigung - Hypoxanthin-Phosphoribosyltransferase-Mangelkrankheit - HGPRT-Mangel - Hyperurikämie-Syndrom Español: SINDROME DE LESCH-NYHAN - SINDROME DE HIPERURICEMIA COREOATETOSIS AUTO-MUTILANTE - ENFERMEDAD POR DEFICIENCIA DE HIPOXANTINA-FOSFORRIBOSIL-TRANSFERASA Português: SINDROME DE LESCH-NYHAN - SINDROME DA COREOATETOSE DE AUTOMUTILACAO POR HIPERURICEMIA - DOENCA DA DEFICIENCIA DE HIPOXANTINA-FOSFORRIBOSILTRANSFERASE HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.228.140.163.474.430.html

13. Medical Encyclopedia: Lesch-Nyhan Syndrome (Print Version) Medical Encyclopedia leschnyhan syndrome. Definition. lesch-nyhan syndrome is an inheritable disorder that affects purine metabolism. http://www.nlm.nih.gov/medlineplus/print/ency/article/001655.htm

To print this page, use the print option from your browser. To close this window, click on the "x" in the upper right hand corner of the window. Medical Encyclopedia: Lesch-Nyhan syndrome URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001655.htm Definition Lesch-Nyhan syndrome is an inheritable disorder that affects purine metabolism. This affects how the body uses RNA and DNA, the proteins that make up the genetic blueprint and determine which proteins are produced for use in cellular processes. Causes, incidence, and risk factors Lesch-Nyhan syndrome is inherited as an X-linked trait, therefore the disease is seen only 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.

14. Lesch-Nyhan Syndrome leschnyhan syndrome. Definition. lesch-nyhan syndrome is a rare genetic disorder that affects males. Males with this syndrome http://www.healthatoz.com/healthatoz/Atoz/ency/lesch-nyhan_syndrome.html

Encyclopedia Index L Home Encyclopedia Encyclopedia Index L Lesch-Nyhan syndrome Definition Lesch-Nyhan syndrome is a rare genetic disorder that affects males. Males with this syndrome develop physical handicaps, mental retardation , and kidney problems. It is caused by a total absence of an enzyme. Self injury is a classic feature of this genetic disease. Description Lesch-Nyhan syndrome was first described in 1964 by Dr. Michael Lesch and Dr. William Nyhan. The syndrome is caused by a severe change (mutation) in the HPRT gene. This gene is responsible for the production the enzyme called hypoxanthine-guanine phosphoribosyltransferase(HPRT). HPRT catalyzes a reaction that is necessary to prevent the buildup of uric acid. A severe mutation in the HPRT gene leads to an absence of HPRT enzyme activity which, in turn, leads to markedly elevated uric acid levels in the blood(hyperuricemia). This buildup of uric acid is toxic to the body and is related to the symptoms associated with the disease. Absence of the HPRT enzyme activity is also thought to alter the chemistry of certain parts of the brain, such as the basal ganglia, affecting neurotransmitters (chemicals used for communication between nerve cells), acids, and other chemicals. This change in the nervous system is also related to the symptoms associated with Lesch-Nyhan syndrome. Males with Lesch-Nyhan syndrome develop neurologic problems during infancy. Infants with Lesch-Nyhan syndrome have weak muscle tone (hypotonia) and are unable to develop normally. Affected males develop uncontrollable writhing movements (athetosis) and muscle stiffness (spasticity) over time. Lack of speech is also a common feature of Lesch-Nyhan syndrome. The most dramatic symptom of Lesch-Nyhan syndrome is the compulsive self-injury seen in 85% of affected males. This self injury involves the biting of their own lips, tongue, and finger tips, as well as head banging. This behavior leads to serious injury and scarring.

15. Lesch-Nyhan Syndrome - Information / Diagnosis / Treatment / Prevention home genetic disorders leschnyhan syndrome lesch-nyhan syndrome. Information • Diagnosis • Treatment • Prevention. External http://www.healthcyclopedia.com/genetic-disorders/lesch-nyhan-syndrome.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... genetic disorders > lesch-nyhan syndrome Lesch-Nyhan Syndrome Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Neurological Disorders/Brain Diseases Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "Lesch-Nyhan syndrome" Health News: Search millions of published articles for news on Lesch-Nyhan Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Baylor College of Medicine: Genetics Research Lesch-nyhan syndrome, some points about the disease from Pragna I. Patel, Ph.D. NINDS: Lesch-Nyhan Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke.

16. Lesch Nyhan, Syndrome : Sites Et Documents Francophones Translate this page Lesch Nyhan, syndrome. Menu général CISMeF. Arborescence(s) du thesaurus MeSH contenant le mot-clé Lesch Nyhan, syndrome lesch-nyhan syndrome http://www.chu-rouen.fr/ssf/pathol/leschnyhansyndrome.html

Lesch Nyhan, syndrome Menu général CISMeF Définition [VIDAL de la famille] : Maladie métabolique liée à un déficit enzymatique qui entraîne une accumulation d'acide urique dans l'organisme, notamment dans le cerveau. Elle se traduit par des troubles graves du comportement. Synonyme(s) CISMeF hypoxanthine guanine phosphoribosyltransférase, déficit en. Voir aussi hypoxanthine phosphoribosyltransférase Arborescence(s) Lesch Nyhan, syndrome Lesch-Nyhan syndrome maladies et malformations congénitales, héréditaires et néonatales métabolisme et nutrition, maladies système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : Qualificatifs : diagnostic patient Lesch-Nyhan, syndrome de [Par Dr Torres-Jimenez R, Mme Garcia-Puig J. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; informations sur la pathologie, signes de la maladie, types de consultations adaptées, laboratoires de diagnostic, projets de recherche en cours, associations de patients ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2003 ; visité le : 21/08/2003].

17. Introduction: Lesch-Nyhan Syndrome - WrongDiagnosis.com Introduction leschnyhan syndrome. Contents for lesch-nyhan syndrome http://www.wrongdiagnosis.com/l/lesch_nyhan_syndrome/intro.htm

Diseases IMPORTANT! Use of this site is subject to our and Home Symptoms Diseases Risks Search: We show you all these ads in order to provide this free site; give your feedback WrongDiagnosis TM Premium Report: Diabetes Diagnosis and Misdiagnosis Available Now! 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 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 Diseases Did we miss something? Please tell your story or provide feedback or suggestions By using this site you agree to our and . 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 and Book Lists WrongDiagnosis.com

18. Lesch-Nyhan Syndrome - Genetics Home Reference Genetic disorder catalog. leschnyhan syndrome. What is lesch-nyhan syndrome? Lesch-Nyhan How common is lesch-nyhan syndrome? The prevalence http://ghr.nlm.nih.gov/condition=leschnyhansyndrome

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help 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 Lesch-Nyhan syndrome What is Lesch-Nyhan syndrome? Lesch-Nyhan syndrome is a condition characterized by the overproduction of uric acid (a chemical formed from the breakdown of DNA or RNA), problems with the nervous system, and behavioral disturbances. 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?

19. Lesch-Nyhan Syndrome - Sources For This Page - Genetics Home Reference leschnyhan syndrome. Back to condition summary. lesch-nyhan syndrome. Nyhan WL. The recognition of lesch-nyhan syndrome as an inborn error of purine metabolism. http://ghr.nlm.nih.gov/condition=leschnyhansyndrome/show/Sources for this page

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Lesch-Nyhan syndrome Back to condition summary Lesch-Nyhan syndrome Sources for this page These resources supplement the information in the Genetics Home Reference condition summary on Lesch-Nyhan syndrome. Ernst M, Zametkin AJ, Matochik JA, Pascualvaca D, Jons PH, Hardy K, Hankerson JG, Doudet DJ, Cohen RM. Presynaptic dopaminergic deficits in Lesch-Nyhan disease. N Engl J Med. 1996 Jun 13;334(24):1568-72. GeneReview: Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res. 2000 Oct;463(3):309-26. Review. ... Review. Last Comprehensive Review: February 2004 Updated: May 10, 2004 Published: May 28, 2004 This is a page from Genetics Home Reference Contact Us Lister Hill National Center for Biomedical Communications U.S. National Library of Medicine ... Accessibility

20. Lesch-Nyhan Syndrome Email this article. Print this article. Find related articles By topic By keywords Receive HealthLink via email! Subscribe now . leschnyhan syndrome. http://healthlink.mcw.edu/article/921774523.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: By keywords: Receive Health Link via email! Subscribe now >> Lesch-Nyhan Syndrome Lesch-Nyhan syndrome (LNS) is a rare, genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase or HPRT. LNS is characterized by self-mutilating behaviors such as lip and finger biting and/or head banging. The symptoms of LNS usually appear between the ages of 3 and 6 months. Frequently the first symptom is the presence of orange-colored crystal-like deposits (orange sand) in the diapers of affected infants. The deposits, which are called urate crystal formation, are caused by increased levels of uric acid in the urine. Uric acid levels, which are abnormally high in individuals with LNS, may also cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body. Other symptoms of LNS may include kidney stones, blood in the urine, pain and swelling of the joints, difficulty swallowing (dysphagia) and eating, and vomiting, impaired kidney function, irritability, uncontrolled aggressive and/or compulsive actions, muscle weakness (hypotonia), uncontrolled spastic muscle movements, and neurological problems such as involuntary writhing movements of the arms and legs (athetosis) and purposeless repetitive movements (chorea) such as shoulder raising and lowering and/or facial grimacing. Moderate mental retardation is also common. Some individuals may develop a rare disorder called megaloblastic anemia.

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