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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 <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Holly, MS, CGC Ishmael, 2005 Lesch-Nyhan syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Holly, MS, CGC Ishmael, Rosalyn, MD Carson-DeWitt, 2005 Lesch-Nyhan Syndrome: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> 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

21. BW Online May 6, 2004 Genomics "We're Steadily Marching"
    He began working on a gene that, when mutated, leads to a terrible illness called leschnyhan syndrome.  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. Lesch-Nyhan Syndrome
    leschnyhan syndrome Registry. New York University School of Medicine, Departmentof Psychiatry, 550 First Ave., New York, NY 10012. (212) 263-6458.  
    http://www.healthatoz.com/healthatoz/Atoz/ency/lesch-nyhan_syndrome.jsp

23. Lesch-Nyhan Syndrome Or Disease (www.whonamedit.com)
    leschnyhan syndrome or disease A syndrome characterised by mental retardation,severely impaired growth, tendency to self mutilation, dislocation of eyes  
    http://www.whonamedit.com/synd.cfm/2175.html
    
    Extractions: 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. 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.

24. HONselect - Lesch-Nyhan Syndrome
    English, leschnyhan syndrome, - Choreoathetosis Self-Mutilation HyperuricemiaSyndrome Français, LESCH NYHAN, SYNDROME. Deutsch, Lesch-Nyhan-Syndrom  
    http://www.hon.ch/HONselect/RareDiseases/C10.228.140.163.474.430.html

25. HONselect - Lesch-Nyhan Syndrome
    English, leschnyhan syndrome, - Choreoathetosis Self-Mutilation Français,Lesch Nyhan, syndrome. Deutsch, Lesch-Nyhan-Syndrom, - HGPRT-Mangel  
    http://www.hon.ch/HONselect/RareDiseases/C10.228.140.163.100.425.html

26. ► Lesch-Nyhan Syndrome
    A medical encycopedia article on the topic lesch-nyhan syndrome.  
    http://www.umm.edu/ency/article/001655.htm
    
    Extractions: Toggle English Spanish 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. 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.

27. Lesch-Nyhan Syndrome - Wikipedia, The Free Encyclopedia
    leschnyhan syndrome, or LNS, is a serious genetic disorder that affects mostlymales. lesch-nyhan syndrome is, for the most part, first suspected when  
    http://en.wikipedia.org/wiki/Lesch-Nyhan_syndrome
    
    Extractions: You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Lesch-Nyhan syndrome , or LNS , is a serious genetic disorder that affects mostly males. Patients have severe mental and physical problems throughout life, including severe gouty arthritis kidney stones mental retardation , and self-mutilating behavior, including chewing on their lips and fingers. LNS is due to mutations in the gene , so named because it codes for the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT or HGPRT, EC ). This enzyme is involved in the biochemical pathways the body uses to produce purines , one of the components of DNA and RNA . Defects of this enzyme lead to increased production of uric acid . The buildup of uric acid is directly responsible for the arthritis and renal symptoms. These respond well to treatment with drugs such as allopurinol which reduce the levels of uric acid in the blood. The direct cause of the bizarre neurological abnormalities remains unknown. The mental deficits and self-mutilating behavior do not respond to treatment. There is no cure, but many patients live to adulthood. Since the HPRT gene is located on the X chromosome , LNS is an X-linked inherited disease. LNS is rare, affecting about one in 380,000 live births. It was first described in

28. Lesch-Nyhan Syndrome
    Links to information for LeschNyhan sydrome, a genetic disorder resulting inthe deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT),  
    http://rarediseases.about.com/cs/leschnyhansynd/
    
    Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); Sign Up Now for the Rare / Orphan Diseases newsletter! New York Times Company Hurricane Katrina About's Hurricane Blogs NY Times Coverage Where to Donate Exclusive: One Family's Story ... How to Explain to Kids Related Topics Multiple Sclerosis Parenting Special Needs Sleep Disorders Headlines Cystic Fibrosis Foundation helps Hurricane Katrina victims Robert J. Beall, Ph.D, President and CEO of the Cystic...

29. Lesch-Nyhan Syndrome
    Synonyms. hypoxanthineguanine phosphoribosyltransferase deficiency syndrome;HG-PRT deficiency syndrome. ICD-9-CM 277.2 lesch-nyhan syndrome  
    http://www.5mcc.com/Assets/SUMMARY/TP0528.html

30. AllRefer Health - Lesch-Nyhan Syndrome
    leschnyhan syndrome information center covers causes, prevention, symptoms,diagnosis, treatment, incidence, risk factors, signs, tests, support groups,  
    http://health.allrefer.com/health/lesch-nyhan-syndrome-info.html
    
    Extractions: 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 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).

31. AllRefer Health - Lesch-Nyhan Syndrome Prevention
    leschnyhan syndrome information center covers Prevention.  
    http://health.allrefer.com/health/lesch-nyhan-syndrome-prevention.html
    
    Extractions: 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 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.

32. Lesch-Nyhan Syndrome
    leschnyhan syndrome is a genetic disorder. It affects the metabolism of lesch-nyhan syndrome is characterized by uric acid buildup and self-injury.  
    http://healthgate.partners.org/browsing/browseContent.asp?fileName=22829.xml&tit

33. Lesch-Nyhan Syndrome Medical Information
    leschnyhan syndrome Information from Drugs.com. lesch-nyhan syndrome is aninheritable disorder that affects how the body builds and breaks down  
    http://www.drugs.com/enc/lesch_nyhan_syndrome.html
    
    Extractions: Advanced Search Or click the first letter of a drug name: A B C D ... Z Injury Disease Nutrition Poison ... Z 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 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.

34. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies:
    Search results for leschnyhan syndrome ALL-FIELDS are shown below. Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease  
    http://www.clinicaltrials.gov/search/term=Lesch-Nyhan Syndrome

35. MyDNA.com - Lesch-Nyhan Syndrome
    myDNA is a consumer focused health, genetics, and genomics information provideroffering disease condition information, health wellness tips,  
    http://www.mydna.com/genes/genetics/disorders/disease/nutritional/lesch.html
    
    Extractions: Page Tools Print This Page E-Mail This Page Add to Favorites Genetics Genetics News Ask Dr. DNA Top Tens Genetics 101 Genetic Testing Genetic Disorders Genes and Disease Blood Diseases Cancer Digestive System Ear, Nose and Throat Female-Specific Disease Glands and Hormones Heart and Blood Vessels Immune System Male Specific Disease Muscle and Bone Neonatal Diseases Nervous System Nutritional and Metabolic Respiratory Diseases Skin, Connective Tissue

36. Lesch-Nyhan Syndrome - Patient UK
    leschnyhan syndrome - Patient UK. A directory of UK health, disease, illnessand related medical websites that provide patient information.  
    http://www.patient.co.uk/showdoc/40001407/
    
    Extractions: PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Synonyms: Hypoxanthine guanine phosphoribosyltransferase 1 deficiency This recessive inherited condition is due to a genetic mutation on the X chromosome resulting in an almost complete dysfunction of the enzyme hypoxanthine guanine phosphoribosyltransferase-1 (HPRT) that converts hypoxanthine to inosinic acid and guanine to guanylic acid. Deficiency causes hyperuricaemia which may be associated with profound neurological dysfunction and behavioural difficulties . A milder problem with the same enzyme is the Kelley-Seegmiller syndrome. Presentation Red grit in nappy due to uric acid crystals with adsorbed pigments. Hypotonic from birth with poor head control becoming apparent at around three months. Poor postnatal growth and weight gain. Torsion dystonia with abnormal posturing and episodic rigidity. Severe

37. Nutritional And Metabolic Diseases
    leschnyhan syndrome. Lesch-Nyhan Disease information. About Lesch-Nyhan Disease -NINDS/NIH (US). lesch-nyhan syndrome HA Jinnah - eMedicine  
    http://www.mic.ki.se/Diseases/C18.html
    
    Extractions: Diseases and Disorders Links pertaining to Nutritional and Metabolic Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Acid-Base Imbalance Acidosis Alkalosis Alkaptonuria ... Zellweger Syndrome Nutritional and Metabolic Diseases FDA Center for - (US) International Union of Nutritional Sciences - (AU) The USDA Nutrient Database for Standard Reference - (US) NATS - Nutritional Analysis Tool and System About some Diagnostic Tests Used in Evaluation of Malabsorption www.FoodSafety.gov Food Safety including a list of Organisms of concern - N Carolina Coop. Ext. Serv. (US) About Food Irradiation - BFE (DE) Facts about Food Irradiation - IAEA (AT) The British Nutrition Foundation Int'l Food Information Council , including a page on Food Additives , and Food Color Facts , and a

38. Lesch-Nyhan Syndrome
    leschnyhan syndrome is a rare, genetic disorder characterized by self-mutilatingbehaviors such as lip and finger biting and/or head banging.  
    http://healthlink.mcw.edu/article/921774523.html
    
    Extractions: Subscribe now >> 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.

39. Short Description Of Cell Lines. Pathology: Lesch-Nyhan Syndrome *308000
    Pathology leschnyhan syndrome *308000 OMIM record. - By selecting the cell linename, you will receive the detailed description of the cell line  
    http://www.biotech.ist.unige.it/cldb/pat28.html

40. Lesch Nyhan Syndrome - Quest Diagnostics Patient Health Library
    leschnyhan syndrome is a rare inborn error of purine metabolism characterizedby the absence or deficiency of the enzyme hypoxanthine-guanine  
    http://www.questdiagnostics.com/kbase/nord/nord255.htm
    
    Extractions: It is possible that the main title of the report Lesch Nyhan Syndrome 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. 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.

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