21. Lesch-Nyhan Syndrome lesch-nyhan syndrome affects 1 in 400,000 live births. Only male......leschnyhan syndrome. Definition lesch-nyhan syndrome lips. 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.

22. Lesch-Nyhan Syndrome Or Disease (www.whonamedit.com) If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here see a doctor. leschnyhan syndrome or disease http://www.whonamedit.com/synd.cfm/2175.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Lesch-Nyhan syndrome or disease Also known as: Nyhan’s syndrome Synonyms: Choreoathetosis-self mutilation syndrome, hyperuricaemia-oligophrenia syndrome, juvenile gout syndrome, juvenile hyperuricaemia syndrome, uric acid disorder-oligophrenia syndrome, hypoxanthine guanine phosphoribosyltransferase deficiency syndrome, primary hyperuricaemia syndrome Associated persons: Michael Lesch William Leo Nyhan Description: A rare and devastating genetic disorder of purine metabolism whereby hypoxanthine guanine phosphoribosyltransferase (HGPRT) results in overproduction of purine and consequently uric acid. Clinically the main characteristics are severe (usually) mental retardation, severely impaired growth, and tendency to self mutilation by lip, thumb, and foot biting; dislocation of eyes; face scratching; head banging. There are extrapyramidal signs with lack of coordination, aggressive behaviour, exaggerated tendon reflexes and positive Babinski signs. Epileptic seizures are present in about half the patients. Renal failure can occur before puberty.

23. Lesch Nyhan Syndrome Lesch Nyhan Syndrome. leschnyhan syndrome is inherited as an X-linked recessive genetic disorder that most often affects males. http://www.bchealthguide.org/kbase/nord/nord255.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord255"; var hwDocTitle="Lesch Nyhan Syndrome"; var hwRank="1"; var hwSectionHWID="nord255"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Lesch Nyhan Syndrome Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Hereditary Hyperuricemia and Choreoathetosis Syndrome HGPRT, Absence of HPRT, Absence of Hyperuricemia, Choreoathetosis, Self-multilation Syndrome Hyperuricemia-Oligophrenia Hypoxanthine-Guanine Phosphoribosyltranferase Defec. (Complete Absense of) Juvenile Gout, Choreoathetosis, and Mental Retardation Syndrome Nyhan Syndrome Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Cerebral Palsy Familial Dysautonomia Gout Megaloblastic Anemia General Discussion Lesch-Nyhan syndrome is a rare inborn error of purine metabolism characterized by the absence or deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Purine, a nitrogen-containing compound found in many foods (e.g., organ meats, poultry, and legumes) is not broken down properly due to the absence of HPRT. Uric acid levels are abnormally high in people with Lesch-Nyhan syndrome and sodium urate crystals may abnormally accumulate in the joints, kidneys, central nervous system, and other tissues of the body. Lesch-Nyhan syndrome is inherited as an X-linked recessive genetic disorder that most often affects males.

24. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for LeschNyhan Disease Condition lesch-nyhan syndrome. http://www.clinicaltrials.gov/search/term=Lesch-Nyhan Syndrome

Home Search Browse Resources ... About Search results for Lesch-Nyhan Syndrome [ALL-FIELDS] are shown below. Include trials that are no longer recruiting patients. 1 study was found. Completed Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease Condition: Lesch-Nyhan Syndrome U.S. National Library of Medicine Contact NLM Customer Service National Institutes of Health Privacy ... Freedom of Information Act

25. Lesch-Nyhan Syndrome leschnyhan syndrome. What is lesch-nyhan syndrome? lesch-nyhan syndrome (LNS) is a rare, genetic disorder caused by a deficiency http://www.clevelandclinic.org/health/health-info/docs/1200/1297.asp?index=6035&

26. Disease Directory : Genetic Disorders : Lesch-Nyhan Syndrome Diseases Genetic Disorders leschnyhan syndrome. eMedicine - lesch-nyhan syndrome Article Excerpt by Hyder A - eMedicine World Medical Library. http://www.diseasedirectory.net/Genetic_Disorders/Lesch-Nyhan_Syndrome/default.a

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Lesch-Nyhan Syndrome Baylor College of Medicine: Genetics Research - Lesch-nyhan syndrome, some points about the disease from Pragna I. Patel, Ph.D. eMedicine - Lesch-Nyhan Syndrome : Article Excerpt by: Hyder A ... - eMedicine World Medical Library. (advertisement). Excerpt from Lesch-Nyhan Syndrome. Please click here to view the full topic text: Lesch-Nyhan Syndrome. Introduction: Lesch-Nyhan syndrome - WrongDiagnosis.com - Introduction: Lesch-Nyhan syndrome. Contents for Lesch-Nyhan syndrome: Kidwatch Org - Children With Special Needs - Lesch-Nyhan Syndrome - LESCH-NYHAN SYNDROME. GENERAL INFORMATION, LINKS AND HELP GROUPS. These pages are for educational and informative purposes only and Lesch – nyhan syndrome, renal manifestation - Professionals only, registration required. Lesch – nyhan syndrome, renal manifestation,. Print this article, (Michael Lesch, 20th Lesch Nyhan Syndrome - Lesch Nyhan Syndrome. Lesch-Nyhan syndrome is inherited as an X-linked recessive genetic disorder that most often affects males. Lesch Nyhan Syndrome - HOME. Lesch Nyhan Syndrome. Genetics research: Lesch-Nyhan syndrome; Short description of cell lines. Pathology: Lesch-Nyhan syndrome;

27. Disease Directory : Lesch-Nyhan Syndrome Or Disease (www.whonamedit.com) Diseases Genetic Disorders leschnyhan syndrome lesch-nyhan syndrome or disease (www.whonamedit.com). Directory Listing. Title http://www.diseasedirectory.net/detailed/25943.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Lesch-Nyhan Syndrome : Lesch-Nyhan syndrome or disease (www.whonamedit.com) Directory Listing Title: Lesch-Nyhan syndrome or disease (www.whonamedit.com) Description: If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Lesch-Nyhan syndrome or disease Date Added: 2/17/2004 10:07:41 AM URL: http://www.whonamedit.com/synd.cfm/2175.html

28. ORPHANET - Rare Diseases - Orphan Drugs Printing version, DISEASE leschnyhan syndrome, Synonym(s) Hypoxanthine guanine phosphoribosyltransferase deficiency, Included disease http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=510

29. Introduction: Lesch-Nyhan Syndrome - CureResearch.com Introduction leschnyhan syndrome. Contents for lesch-nyhan syndrome Printable Next Basic Summary for lesch-nyhan syndrome By http://cureresearch.com/l/lesch_nyhan_syndrome/intro.htm

IMPORTANT! Use of this site is subject to our and Navigate Home Contents Diseases Search ... Next Search: Condition Lists By Organ By Class By Prevalence By Deaths ... Full List 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 Printable Basic Summary for Lesch-Nyhan syndrome 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 guide to books The Complete Fat Flush Program : Ann Louise Gittleman's popular weight-loss and healthy eating program [ADVERTISEMENT] more diet books Weight Training Workouts that Work : Takes all the guesswork out of weight training [ADVERTISEMENT] more fitness books Johns Hopkins Symptoms and Remedies: The Complete Home Medical Reference [ADVERTISEMENT] more symptom books The Merck Manual of Medical Information, Second Edition: The World's Most Widely Used Medical Reference - Now In Everyday Language

30. Lesch-Nyhan Syndrome leschnyhan syndrome. DESCRIPTION syndrome; HG-PRT deficiency syndrome. ICD-9-CM 277.2 lesch-nyhan syndrome Author(s) Mark R. Dambro, MD http://www.5mcc.com/Assets/SUMMARY/TP0528.html

Lesch-Nyhan syndrome DESCRIPTION: An X-linked disease caused by a deficiency of an enzyme of purine metabolism, hypoxanthine-guanine phosphoribosyl transferase, and characterized by physical and mental retardation, hyperuricemia, self-mutilation, and choreoathetosis. CAUSES: hypoxanthine-guanine phosphoribosyltransferase deficiency Synonyms: hypoxanthine-guanine phosphoribosyltransferase deficiency syndrome HG-PRT deficiency syndrome ICD-9-CM: 277.2 Lesch-Nyhan syndrome Author(s): Mark R. Dambro, MD

31. Lesch-Nyhan Syndrome leschnyhan syndrome. Versione italiana. lesch-nyhan syndrome is an inborn error in the metabolism of purines. It is caused http://www.webst.it/lesch-nyhan/engl2.htm

Lesch-Nyhan Syndrome Versione italiana L esch-Nyhan Syndrome is an inborn error in the metabolism of purines. It is caused by a deficency in the hypoxanthine-guanine phosphoribosiltransferase(HPRT). The enzime abnormality results from mutations in the gene in the long arm of the X chromosome. The expression is generally fully recessive, making this a disease virtually exclusively of males. However, a very few females have recently been diagnosed with the disease. Sometimes the disease is misdiagnosed due to certain similarities to other brain disorders such as cerebral palsy. Appropriate laboratory tests must be conducted to assure an accurate diagnosis. The fully developed clinical picture is readily recognized, but the earliest presentation may be very subtle. The enzyme defect leads to massive accumulation of uric acid hyeruricemia and increases quantities of urinary urate. This result is often first manifested in collections of whath looks like orange sand in the diaper. Hematuria may be an early sign, and patients have been presented with calculi or obstructive uropathy, even in early infancy. Motor and neurologic development may be normal at first. In some, arching of the back or opisthotonos may occur early. there may be hypotonia or poor head control in the infant fails to sit unsupported. If this milestone had been attained, the infant loses the ability. Patients with this disease have not learned to walk.

32. Your Health - Lesch-Nyhan Syndrome leschnyhan syndrome. by Michelle Badash, MS. Definition. lesch-nyhan syndrome is a genetic disorder. It affects the metabolism of purines in the body. http://www.aurorahealthcare.org/yourhealth/healthgate/getcontent.asp?URLhealthga

33. LESCH-NYHAN SYNDROME Features Listed For leschnyhan syndrome. McKusick 308000. Anal atresia/stenosis; Extra-pyramidal disorder; Joint stiffness/arthritis; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?997

34. AllRefer Health - Lesch-Nyhan Syndrome leschnyhan syndrome. Definition. lesch-nyhan syndrome is an inheritable disorder that affects purine metabolism. This affects how http://health.allrefer.com/health/lesch-nyhan-syndrome-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page 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. 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).

35. AllRefer Health - Lesch-Nyhan Syndrome Prevention You are here AllRefer.com Health Diseases Conditions leschnyhan syndrome Prevention of lesch-nyhan syndrome. lesch-nyhan syndrome. http://health.allrefer.com/health/lesch-nyhan-syndrome-prevention.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Lesch-Nyhan Syndrome : Prevention of Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome Definition Prevention Treatment Expectations or Prognosis Complications Calling Your Health Care Provider ... Go To Main Page Prevention Genetic counseling for prospective parents with a family history of Lesch-Nyhan syndrome is recommended. The carrier state of the mother may be determined by culture of skin fibroblasts. Half the fibroblasts will have normal levels of the HGP enzyme and the remaining half will have deficient or absent HGP. Previous Top Next Jump to another section Definition Prevention Treatment Prognosis Complications Calling Your Health Care Provider Topics that might be of interest to you Skin Lesion Biopsy Uric Acid Uric Acid - Urine Urine Chemistry Other Topics Enzyme Genes Genetic Counseling and Prenatal Diagnosis Genetics ... Swelling Review Date : 7/11/2002 Reviewed By : Chayim Newmark, M.D., Department of Pediatrics, St. Louis Children's Hospital, Washington University, St. Louis, MO. Review provided by VeriMed Healthcare Network.

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Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Genetic Disorders ... Lesch-Nyhan Syndrome More Lesch-Nyhan Syndrome Categories: Submit Your Site to the Lesch-Nyhan Syndrome category Sponsored Lesch-Nyhan Syndrome Sites Cystic Fibrosis Book Store At WellnessBooks.com Comprehensive source to books on Cystic Fibrosis. Includes community boards and chat, book reviews and online ordering. Buy Genetic Disorders Products We link to merchants which offer Genetic Disorders products for sale. Online Doctors - Ask Us Now! Kasamba's variety of health experts- including Doctors, Specialists, Herbalists, Nurses and more- offer real help for affordable consultation fees- live via chat or e-mail! Buy Genetics Books At Amazon.com and Save! Would you like to save on Genetics Books at Amazon and other stores? Compare prices at BookSellersNow.com! Our site continually proves that online shopping can be fun! Baylor College of Medicine: Genetics Research - Lesch-nyhan syndrome, some points about the disease from Pragna I. Patel, Ph.D. Mylifepath - Lesch-Nyhan Syndrome, a definition, description, a look at the causes and symptoms, diagnosis, treatment, prognosis, prevention and further reading.

37. Genetic Disorders, Lesch-Nyhan Syndrome Category Home Health Conditions and Diseases Genetic Disorders leschnyhan syndrome. * Site Title · The name of the site. http://www.iseekhealth.com/directory/index.php?method=show_link_exchange&directo

38. Lesch Nyhan Syndrome,Hereditary Hyperuricemia And Choreoathetosis Syndrome,Absen also known as leschnyhan syndrome Hereditary Hyperuricemia and Choreoathetosis Syndrome HGPRT, Absence of HPRT, Absence of Hyperuricemia, Choreoathetosis http://www.icomm.ca/geneinfo/lesch.htm

Lesch Nyhan Syndrome,Hereditary Hyperuricemia and Choreoathetosis Syndrome,Absence of HGPRT,Absence of HPRT,Hyperuricemia Choreoathetosis Self-multilation Syndrome,Hyperuricemia-Oligophrenia,Hypoxanthine-Guanine Phosphoribosyltranferase Defect (Complete Absense of),Juvenile Gout Choreoathetosis and Mental Retardation Syndrome,Nyhan Syndrome For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Lesch-Nyhan Disease also known as: Lesch-Nyhan Syndrome Hereditary Hyperuricemia and Choreoathetosis Syndrome HGPRT, Absence of HPRT, Absence of Hyperuricemia, Choreoathetosis, Self-multilation Syndrome Hyperuricemia-Oligophrenia Hypoxanthine-Guanine Phosphoribosyltranferase Defec. (Complete Absense of) Juvenile Gout, Choreoathetosis, and Mental Retardation Syndrome Nyhan Syndrome (as defined by the National Institute for Neurological Disorders and Strokes Table of Contents (click to jump to sections) What is Lesch-Nyhan Syndrome?

39. Lesch-Nyhan Syndrome- Medcohealth.com leschnyhan syndrome. Source ADAM, Inc. Updated December 2003. Definition. lesch-nyhan syndrome is an inheritable disorder that affects purine metabolism. http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Dise

40. Short Description Of Cell Lines. Pathology: Lesch-Nyhan Syndrome *308000 Version 4.200205, Short description of cell lines. Pathology leschnyhan syndrome *308000 OMIM record. - By selecting the cell line http://www.biotech.ist.unige.it/cldb/pat28.html

Version Short description of cell lines. Pathology: Lesch-Nyhan syndrome OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast MIISA human, Caucasian ... By Beatrice...

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