41. Lesch-Nyhan Syndrome Diseases, Conditions and Injuries. leschnyhan syndrome. Definition. lesch-nyhan syndrome is a genetic disorder. It affects the metabolism of purines in the body. http://www.somersetmedicalcenter.com/1563.cfm

Community Advisor Search Send to a friend Home  Diseases, Conditions and Injuries Lesch-Nyhan Syndrome (Hypoxanthine-guanine Phosphoribosyltransferase Deficiency or HPRT Deficiency, Lesch-Nyhan Disease) by Michelle Badash, MS Definition Causes Risk Factors ... Organizations Definition Lesch-Nyhan syndrome is a genetic disorder. It affects the metabolism of purines in the body. Purines are protein molecules that are important for the metabolism of RNA and DNA, which make up our genetic codes. Lesch-Nyhan syndrome is characterized by uric acid buildup and self-injury. It occurs mainly in males. This disease is rare; it occurs in 1 of every 100,000 males. Causes Lesch-Nyhan syndrome is caused by a mutation or change in a gene. This change results in the absence of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). HPRT is needed to metabolize uric acid. Without this enzyme, uric acid builds up in the central nervous system, kidneys, and other areas of the body. This gene mutation occurs on the X chromosome. It can either be a new mutation in the affected person or inherited from his mother, who is a carrier. Risk Factors A risk factor is something that increases your chances of getting a disease or condition. Risk factors for developing Lesch-Nyhan syndrome include:

42. Wordbank On The Mental Health Foundation Website leschnyhan syndrome. An inheritable disorder which is seen only in males due to an X (male) chromosome abnormality. lesch-nyhan syndrome. Lewy bodies. http://www.mentalhealth.org.uk/wordbank.cfm?wordid=179&wbletter=L

43. Lesch-Nyhan Syndrome - General Practice Notebook leschnyhan syndrome. lesch-nyhan syndrome is an X-linked recessive disorder that is characterised by an enzyme defect in purine http://www.gpnotebook.co.uk/cache/-288358391.htm

Lesch-Nyhan syndrome Lesch-Nyhan syndrome is an X-linked recessive disorder that is characterised by an enzyme defect in purine metabolism (reduced hypoxanthine-guanine phosphoribosyl transferase) and excessive uric acid production and excretion. This syndrome is only fully expressed in males. Click here for more information...

44. Conditions And Diseases - Lesch-Nyhan Syndrome Top Links leschnyhan syndrome Web Site Links. NINDS lesch-nyhan syndrome - Information sheet compiled by the National Institute of Neurological Disorders and Stroke. http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso

Sub Categories Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Lesch-Nyhan Syndrome Web Site Links Lesch-Nyhan Disease National Registry Includes FAQs, research, treatment, education, and support for LND. NINDS: Lesch-Nyhan Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke. Baylor College of Medicine: Genetics Research Lesch-nyhan syndrome, some points about the disease from Pragna I. Patel, Ph.D. Drkoop.com: Medical Encyclopedia A look at the causes and risks, prevention, symptoms, tests and treatment for lesch-nyhan syndrome. Mylifepath Lesch-Nyhan Syndrome, a definition, description, a look at the causes and symptoms, diagnosis, treatment, prognosis, prevention and further reading. Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research. AHRQ: Clinical Information Clinical information on evidence-based practice, clinical guidelines, medical effectiveness, pharmaceutical therapy, new technology, screening and preventive services, outcomes research, and the National Guideline Clearinghouse. The UK Health Technology Assessment Programme Site contains details of program's many projects and publications; an NHS national research and development initiative.

45. Genetic Disorders: Lesch-Nyhan Syndrome Genetic Disorders leschnyhan syndrome. lesch-nyhan syndrome, some points about the disease from Pragna I. Patel, Ph.D. Mylifepath. http://www.puredirectory.com/Health/Conditions-and-Diseases/Genetic-Disorders/Le

Genetic Disorders: Lesch-Nyhan Syndrome Home Health Conditions and Diseases Genetic Disorders : Lesch-Nyhan Syndrome google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000'; Standard Listings 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 read... NINDS: Lesch-Nyhan Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor PureDirectory.com uses a modified version of the Open Directory.

46. Lesch-Nyhan Syndrome Search. This book All books PubMed. Genes and Disease PDF Document Nutritional and Metabolic Diseases leschnyhan syndrome Lesch-Nyhan http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect

47. OMIM - LESCH-NYHAN SYNDROME; LNS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300322

48. ► Lesch-Nyhan Syndrome English / Spanish leschnyhan syndrome. Definition lesch-nyhan syndrome is an inheritable disorder that affects purine metabolism. This affects http://www.umm.edu/ency/article/001655.htm

Disease Nutrition Surgery Symptoms Injury ... Encyclopedia (English) Toggle English Spanish Lesch-Nyhan syndrome Overview Symptoms Treatment 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.

49. Lesch-Nyhan Syndrome leschnyhan syndrome. lesch-nyhan syndrome, Urate; urine - urate. Hypoxanthine-guanine phosphoribosyl transferase (HGPRT) assay - consult pathologist. http://www.rcpa.edu.au/pathman/leschnyh.htm

This site has been updated. Please go to www.rcpamanual.edu.au This page will be permanently removed on 30th September 2004. Please update your links. Lesch-Nyhan syndrome Lesch-Nyhan syndrome Urate; urine - urate. Hypoxanthine-guanine phosphoribosyl transferase (HGPRT) assay - consult pathologist. Coloured urine Self mutilation Mental retardation Extrapyramidal features Hyperuricaemia

50. Kidwatch Org - Children With Special Needs - Lesch-Nyhan Syndrome leschnyhan syndrome. GENERAL INFORMATION, LINKS AND HELP GROUPS. These pages are for educational and informative purposes only and http://www.kidwatch-uk.net/Special/lesch.htm

MENU Back to MAIN MENU Down's Syndrome Autism Cerebral Palsy ... Spina Bifida OTHER CONDITIONS A.M.C. Attention Defecit Hydrocephalus Lissencephaly SYNDROMES Apert Asperger's Charge De Morsier's ... Williams LESCH-NYHAN SYNDROME GENERAL INFORMATION, LINKS AND HELP GROUPS These pages are for educational and informative purposes only and do not constitute - nor are they intended to provide - medical advice. The information provided should not be used for any form of diagnosis. MANY symptoms evident in these conditions are also widely seen in quite 'normal' children and you should not be concerned by what you read. If you are concerned in any way about the health of your child you should contact your child's doctor or other health care provider as soon as possible. Type Rare Genetic Enzyme Deficiency General Description Lesch-Nyhan syndrome (LNS) is a rare genetic disorder characterized by an overproduction of uric acid, neurological disability, and behavioral problems. The symptoms of LNS typically appear between ages 3 and 6 months; the presence of orange-colored crystal-like deposits (orange sand) in the child's diaper is usually the first symptom to appear in those affected with the syndrome. 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.

51. Ez2Find Lesch-Nyhan Syndrome Guide leschnyhan syndrome, Global Metasearch Any Language Guides, lesch-nyhan syndrome. ez2Find Home Directory Health Conditions http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

52. Health Library - Lesch Nyhan Syndrome. leschnyhan syndrome is inherited as an X-linked recessive genetic disorder that most often affects males. http://12.42.224.152/Library/HealthGuide/IllnessConditions/topic.asp?hwid=nord25

53. Lesch-Nyhan Syndrome The New Health Directory, Directory, Home Health Conditions and Diseases Genetic Disorders leschnyhan syndrome (3) See Also http://www.thenewhealthfind.com/Health/ConditionsandDiseases/GeneticDisorders/Le

Directory Home Health Conditions and Diseases Genetic Disorders : Lesch-Nyhan Syndrome (3) See Also: Health: Conditions and Diseases: Neurological Disorders: Brain Diseases NINDS: Lesch-Nyhan Syndrome - Information sheet compiled by the National Institute of Neurological Disorders and Stroke. 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. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Quick Links sport nutrition supplement obesity facts creatine benefits treatment scars acne ... Phosphatidyl Choline The New Health Directory Site Map Privacy Contact Advertise ... Health Directory

54. Medicdirect - Comprehensive UK Health Information leschnyhan syndrome Definition. lesch-nyhan syndrome is an abnormality in metabolism causing movement and behavioural problems. Incidence. http://www.medicdirect.co.uk/clinics/default.ihtml?step=4&pid=1993

55. Lesch Nyhan Syndrome leschnyhan syndrome PubMed Medline search on lesch-nyhan syndrome lesch-nyhan syndrome factsheet National Institute for Neurological Disorders and Stroke. http://www.ion.ucl.ac.uk/library/patient/lesch.htm

Lesch-Nyhan Syndrome Medline NLM definition : An X-linked disease caused by a deficiency of an enzyme of purine metabolism, hypoxanthine phosphoribosyltransferase, and characterized by physical and mental retardation, hyperuricemia, self-mutilation, and choreoathetosis. PubMed Medline search on Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome factsheet: National Institute for Neurological Disorders and Stroke Support Groups PUMPA The Purine Metabolic Patients' Association c/o Voluntary Services Guy's Hospital London Bridge, SE1 9RT U.K. Tel: +(44) 207 955 2438 E-mail: info@pumpa.org Registered Charity No. 1019792 The charity seeks to improve the care of patients and helps families by advancing knowledge of purine metabolic disorders at every level amongst the public and medical profession; also supporting the work of Guy's Hospital Purine Research Unit.

56. Healthwise Topic Lesch Nyhan Syndrome, Back to previous page. leschnyhan syndrome is inherited as an X-linked recessive genetic disorder that most often affects males. http://www.stlukes-sf.sutterhealth.org/health/healthinfo/index.cfm?section=healt

57. Lesch-Nyhan Syndrome Medical Wisdom Health Concerns. leschnyhan syndrome Information Page. Table of Contents (click to jump to sections). What is lesch-nyhan syndrome? Is there any treatment? http://medicalwisdom.com/health/disorders/lesch_doc.htm

Join our Message Board Forum Health Concerns Women's Health ... Dental Health Concerns Lesch-Nyhan Syndrome Information Page Table of Contents (click to jump to sections) What is Lesch-Nyhan Syndrome? Is there any treatment? What is the prognosis? 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? The prognosis for individuals with LNS is poor as there is no treatment for the neurological defects. The build-up of uric acid within the body causes agonizing episodes of self-mutilation and may result in severe retardation and, ultimately, death. Return to top Health Concerns Connection A B ... Z Hosted By Richardson Graphics Web Design Printing and Hosting

58. Mathews/van Holde/Ahern 3rd Edition leschnyhan syndrome Hypoxanthine When the defect leads to the complete absence of activity of HGPRT, lesch-nyhan syndrome is the result. The http://www.aw-bc.com/mathews/ch22/c22lns.htm

Lesch-Nyhan Syndrome Hypoxanthine-guanine phosphoribosyltransferase ( HGPRT ) is a salvage pathway enzyme for purine metabolism (another is specific for adenine). When a defect in HGPRT reduces its activity to a low level, gout is the result. When the defect leads to the complete absence of activity of HGPRT, Lesch-Nyhan syndrome is the result. The gene for HGPRT is found on the X chromosome, so the disease is sex-linked. Patients have severe "gouty" arthritis and a dramatic malfunction of the nervous system, manifested as behavioral disorders, learning disabilities, and hostile or aggressive behavior, often self-directed. Individuals with Lesch-Nyhan syndrome rarely live beyond 20 years. See also: Excessive Uric Acid in Purine Degradation INTERNET LINK: Lesch-Nyhan Syndrome

59. COMOMUSIC.COM - Local Artists Back to Local Artists Index, LOCAL ARTIST The leschnyhan syndrome . The lesch-nyhan syndrome Show Reviews No Show Reviews submitted yet! http://www.comomusic.com/displaybands.php?bandid=586

60. RESEARCH BRIEF: COGNITIVE ABILITIES OF PATIENTS WITH LESCH-NYHAN SYNDROME Communication Digest, p. 10. RESEARCH BRIEF COGNITIVE ABILITIES OF PATIENTS WITH leschnyhan syndrome. Review by Steve Drake. The label of http://soeweb.syr.edu/thefci/1-2dra.htm

This article originally appeared in Vol. 1 No. 2 (Feb., 1993) of the Facilitated Communication Digest, [p. 10]. RESEARCH BRIEF: COGNITIVE ABILITIES OF PATIENTS WITH LESCH-NYHAN SYNDROME Review by Steve Drake Journal of Autism and Developmental Disorders, 22 Nat Hentoff, in his article "The Awful Privacy of Baby Doe", referred to Lesch-Nyhan syndrome as an example of a condition so terrible in its outcome that no one believes that extraordinary means should be used to extend the life of affected individuals. The syndrome, which affects only males, is characterized by severe motor impairment and compulsive self-injurious behavior. Individuals with Lesch-Nyhan have been thought to suffer from severe intellectual impairment. The study Realizing that descriptions of individuals with Lesch-Nyhan found in the literature are often at odds with the traditional diagnosis of mental retardation, researchers designed an alternative method for making inferences about their subjects' intellectual ability. The research team designed a 176-item questionnaire asking parents for wide-ranging information about their children. 51 of these questions were believed to relate to certain areas of cognitive functioning. These were broken down as follows: alertness and orientation; affect; abstract thinking and insight; memory; deductive-inductive reasoning and comprehension; use of language and communication; scholastic ability; social skills; parenting strategies and factors affecting self-injury.

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