21. Lesch Nyhan Syndrome HOME Lesch Nyhan Syndrome. Genetics research leschnyhan syndrome;Short description of cell lines. Pathology lesch-nyhan syndrome; http://www.bdid.com/lesch.htm

HOME Lesch Nyhan Syndrome Genetics research: Lesch-Nyhan syndrome Short description of cell lines. Pathology: Lesch-Nyhan syndrome Lesch-Nyhan, syndrome : sites francophones Purine Research Society ... HOME

22. Health Library - Lesch Nyhan Syndrome Lesch Nyhan Syndrome. leschnyhan syndrome is inherited as an X-linkedrecessive genetic disorder that most often affects males. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

23. Lesch-Nyhan Syndrome MAIN SEARCH INDEX leschnyhan syndrome. Definition. lesch-nyhan syndromeis a rare genetic disorder that affects males. Males with http://www.hendrickhealth.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.

24. Lesch-Nyhan Syndrome | Principal Health News Syndrome. leschnyhan syndrome. Leipzig, G. Victor. Definition. Lesch-Nyhansyndrome is a rare genetic disorder that affects males. Males http://www.principalhealthnews.com/topic/topic100587078

About This Site Registration FAQ Contact Us ... Site Awards You are here: Home Health A to Z Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome Leipzig, G. Victor Below: 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.

25. Lesch-Nyhan Syndrome | Ahealthyme.com You are here Home Health A to Z leschnyhan syndrome. Lesch-NyhanSyndrome. lesch-nyhan syndrome Leipzig, G. Victor. http://www.ahealthyme.com/topic/topic100587078

Search AHealthyMe! Personalize AHealthyMe! Sign up for our Newsletter! You are here: Home Health A to Z Lesch-Nyhan Syndrome Leipzig, G. Victor Below: 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.

26. Health Library - Lesch Nyhan Syndrome Lesch Nyhan Syndrome. leschnyhan syndrome is inherited as an X-linkedrecessive genetic disorder that most often affects males. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

27. Lesch-Nyhan Syndrome Or Disease (www.whonamedit.com) leschnyhan syndrome or disease Also known as Nyhan’s syndrome SynonymsChoreoathetosis-self mutilation syndrome, hyperuricaemia http://www.whonamedit.com/synd.cfm/2175.html

Home List categories Eponyms A-Z Biographies by country ... Contact 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. Patients are normal at birth but become irritable by 2-4 months. Self-destructive behaviour usually starts at 2 years of age. The disease almost exclusively affects males and is impossible to detect before delivery unless the mother is known to carry the gene. Etiology unknown. Sex-linked type of inheritance. Since the defective gene is recessive, females almost never exhibit the disease, but may be carriers. There are only two documented cases in females. Even distribution among races and geographic locales. Occurrence is approximately one in 380.000 births.

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

Your browser does not support HTML frames so you must view Lesch-Nyhan Syndrome in a slightly less readable form. Please follow this link to do so.

29. 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

30. Lesch-Nyhan Syndrome | Building Better Health You are here Home Health A to Z leschnyhan syndrome HealthTopics AZ lesch-nyhan syndrome. Leipzig, G. Victor. http://www.buildingbetterhealth.com/topic/topic100587078

Medical Library Cool Tools Women's Health Men's Health ... Drug Dictionary You are here: Home Health A to Z Health Topics A-Z Lesch-Nyhan Syndrome Leipzig, G. Victor Below: 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.

31. AD HOC BIBLIO - INDEX SUJETS LETTRE L Compilé Le 14/01/03 a; leschnyhan syndrome A female patient with lesch-nyhan syndrome .a;A female patient with lesch-nyhan syndrome .a; A http://www.cidg.com/~marienf/k/i/mid1l.htm

L The platform transfer splint : 2 case reports of a mobility aide for persons wit... [a] Pathophysiology of cerebellar dysfunction in the Wernicke-Korsakoff Syndrome.... [a] Parent perceptions of inclusive practices for their children with significant co... [a] School choice policies and practices for students with disabilities.... [a] Clinical and neurophysiologic response of myopathy and neuropathy in long-chain ... [a] L-Carnitine... Rett Syndrome : Randomized controlled trial of L-Carnitine.... [a] L-Tryptophan... Chronic demyelinating polyneuropathy associated with eosinophilia-myalgia syndro... [a] Laboratoire de marche... Performance and potential of clinical movement analysis laboratory. Session 4. A... [a] Lambeaux... [a] Autonomic dysfunction in the Lambert-Eaton myasthenic syndrome. Serologic and cl... [a] Congenital myasthenic syndromes. 34th ENMC International Workshop, 10-11 June 19... [a] Congenital Myasthenic Syndromes: I.Deficiency and short open-time of the acethyl... [a] Congenital Myasthenic Syndromes: II.Syndrome attributed to abnormal interaction ... [a] Diagnosis and treatment of Lambert-Eaton Myasthenic Syndrome....

32. Marfan Syndrome.... 1995 Translate this page Titre/Title, lesch-nyhan syndrome. Editeur/Editor, MacKeith Press.Lieu/Place, London, UK. Date, 1995. Collation/Series, p.127-30. http://www.cidg.com/~marienf/k/i/n/m003099.htm

# Mono.: S0002799 Cote/Call Number Auteur/Author Udwin, Orlee Dennis, Jennifer Titre/Title Marfan Syndrome. Editeur/Editor MacKeith Press Lieu/Place London, U.K. Date Collation/Series p.134-36 Descripteurs/Descriptors Marfan Syndrome Phenotype comportemental Coll.: Clinics in Developmental Medicine, No 138 Demande par courrier Type de demande: < Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

33. Lesch-Nyhan Syndrome | Vhihealthe leschnyhan syndrome. Definition. lesch-nyhan syndrome is a rare geneticdisorder that affects males. Males with this syndrome develop http://www2.vhihealthe.com/topic/topic100587078

You are here: Home Health A to Z Lesch-Nyhan Syndrome Leipzig, G. Victor Below: 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.

34. ORPHANET® : Lesch-Nyhan Syndrome Translate this page ORPHANET. ORPHANET database access. lesch-nyhan syndrome. Direct access to detailsAlias Hypoxanthine guanine phosphoribosyltransferase deficiency. Home Page. http://www.orpha.net/static/GB/lesch_nyhan.html

ORPHANET database access Lesch-Nyhan syndrome Direct access to details Alias : Home Page

35. 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

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

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

37. Lesch-Nyhan Syndrome | AHealthyAdvantage You are here Home Health A to Z leschnyhan syndrome. lesch-nyhan syndrome. Definition.lesch-nyhan syndrome is a rare genetic disorder that affects males. http://www.ahealthyadvantage.com/topic/topic100587078

Site Search Ills and Conditions Women's Health Men's Health Senior Health ... Self-Care Centers Go To Premera Home Provider Directory Preferred Drug List Cool Tools ... Health A-Z You are here: Home Health A to Z Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome Leipzig, G. Victor Below: 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.

38. Lesch-Nyhan Syndrome leschnyhan syndrome. Definition lesch-nyhan syndrome is an inheritabledisorder that affects purine metabolism. This affects http://www.pennhealth.com/ency/article/001655.htm

Disease Injury Nutrition Poison ... Prevention Lesch-Nyhan syndrome 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. 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.

39. Lesch-Nyhan Syndrome leschnyhan syndrome. Symptoms family history of lesch-nyhan syndrome;male infant with delayed motor development; movement disorder; http://www.pennhealth.com/ency/article/001655sym.htm

Disease Injury Nutrition Poison ... Prevention Lesch-Nyhan syndrome Symptoms: family history of Lesch-Nyhan syndrome male infant with delayed motor development movement disorder destructive chewing of fingers or lips (self-destructive behavior) Signs and tests: Physical examination and testing may show: hyperreflexia spasticity choreoathetoid movements compulsive self-destructive behavior increased serum uric acid increase excretion of uric acid, urine decreased HGP levels in cultured fibroblasts Tests: serum chemistry, uric acid urine chemistry , uric acid skin biopsy tissue culture (fibroblasts) 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.

40. The Family Village / Library / Lesch-Nyhan Disease leschnyhan syndrome Registry New York University School of Medicine Department ofPsychiatry 550 First Avenue New York NY 10012 Phone (212) 263-6458 Fax (212 http://www.familyvillage.wisc.edu/lib_lnd.htm

Lesch-Nyhan Disease Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Lesch-Nyhan Disease" Who to Contact International Lesch-Nyhan Disease Association 114 Winchester Way Shamong, NJ 08088-9398 Lesch-Nyhan Syndrome Registry New York University School of Medicine Department of Psychiatry 550 First Avenue New York NY 10012 Phone: (212) 263-6458 Fax: (212) 629-9523 e-mail: andersnl@is2.nyu.edu Where to Go to Chat with Others We are unaware of any discussion forums specifically for this diagnosis. However, there are several forums that may be of interest to parents of children with disabilities or special health care needs regardless of diagnosis. See General Disability On-Line Discussion Groups Learn More About It Lesch-Nyhan Disease Lesch-Nyhan Syndrome (LNS) from the National Institutes of Health New Approaches to Understanding Lesch-Nyhan Disease Lesch-Nyhan Disease information from PedBase ... Lesch-Nyhan Disease information from OMIM Web Sites International Lesch-Nyhan Disease Registry Lesch-Nyhan Page Back to [ K - L Family Village Home Library Coffee Shop ... Information Last Updated 27-July-1999 by rowley@waisman.wisc.edu

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