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

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

Extractions: Community Advisor Search Send to a friend Home Diseases, Conditions and Injuries by Michelle Badash, MS Definition Causes Risk Factors ... Organizations 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. 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. A risk factor is something that increases your chances of getting a disease or condition. Risk factors for developing Lesch-Nyhan syndrome include:
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
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
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
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

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

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.
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
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

Extractions: 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.
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
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
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
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
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

Extractions: 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
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
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

Extractions: 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
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

Extractions: 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
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
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

Extractions: This article originally appeared in Vol. 1 No. 2 (Feb., 1993) of the Facilitated Communication Digest, [p. 10]. 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. 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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