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         Lesch-nyhan Syndrome:     more detail
  1. Lesch Nyhan Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-10-21
  2. The Official Parent's Sourcebook on Lesch-nyhan Syndrome: Directory for the Internet Age by Icon Health Publications, 2005-01-31
  3. Lesch?Nyhan Syndrome: Genetic disorder, Enzyme, Hypoxanthine- guanine phosphoribosyltransferase, Mutation, Gene, Uric acid, Hyperuricemia, Hyperuricosuria, ... Self- injury, Huntington's disease
  4. Gale Encyclopedia of Medicine: Lesch-Nyhan syndrome by Holly Ann Ishmael M.S., 2002-01-01
  5. Lesch-Nyhan Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18
  6. Lesch-Nyhan Syndrome Medical Guide by Qontro Medical Guides, 2008-07-09
  7. Lesch-Nyhan syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Holly, MS, CGC Ishmael, 2005
  8. 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
  9. 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
  10. 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

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

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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.

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
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 Search ... Contact 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
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 - HGPRT-Mangel - Hypoxanthin-Phosphoribosyltransferase-Mangelkrankheit - Choreoathetose mit Selbstbeschädigung - Hyperurikämie-Syndrom Español: Síndrome de Lesch-Nyhan - Enfermedad por Deficiencia de Hipoxantina-Fosforribosil-Transferasa - Síndrome de Hiperuricemia, Coreoatetosis y Automutilación Português: Síndrome de Lesch-Nyhan - Doença da Deficiência de Hipoxantina-Fosforribosiltransferase - Síndrome de Hiperuricemia, Coreoatetose e Automutilação 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 Search ... Contact 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
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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.

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
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Lesch-Nyhan syndrome
From Wikipedia, the free encyclopedia.
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/
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Guide picks A genetic disorder resulting in the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), leading to neurological and other physical problems.
MCW Health Link

Brief information on the disorder from the Medical College of Wisconsin. NINDS: Lesch-Nyhan Syndrome
Information about the disorder from the National Institute for Neurological Disorders and Stroke. NORD: Lesch-Nyhan Syndrome
Brief definition of the disorder from the National Organization for Rare Disorders. Topic Index Email to a Friend
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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
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

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

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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

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Web health.allrefer.com You are here : AllRefer.com Health Lesch-Nyhan Syndrome : Prevention of Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
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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.
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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.

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

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Lesch-Nyhan syndrome
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 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
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
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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
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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/
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.
Lesch-Nyhan Syndrome (LNS)
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
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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
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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.

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
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Pathology: Lesch-Nyhan syndrome
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By selecting the cell line name , you will receive the detailed description of the cell line
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You can search any term of the list by using the 'Find' utility of your browser
human, Caucasian
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By Beatrice...

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
var hwPrint=1;var hwDocHWID="nord255";var hwDocTitle="Lesch Nyhan Syndrome";var hwRank="1";var hwSectionHWID="nord255-Header";var hwSource="en-usQ2_05";var hwDocType="Nord";
National Organization for Rare Disorders, Inc.
Lesch Nyhan Syndrome
Important
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.
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
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.
The symptoms of Lesch-Nyhan syndrome include impaired kidney function, joint pain, and self-mutilating behaviors such as lip and finger biting and/or head banging. Additional symptoms may include muscle weakness (hypotonia), uncontrolled spastic muscle movements, and neurological impairment.

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