81. Disease - Lesch-Nyhan Syndrome - Detroit, Michigan Disease lesch-nyhan syndrome - courtesy of Henry Ford Health System of Detroit,Michigan. http://www.henryfordhealth.org/12801.cfm

3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia Health Encyclopedia Back to main Health Information page Disease - 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 And Risk: 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.

82. Lesch-Nyhan Syndrome leschnyhan syndrome is a rare genetic disorder that affects males. Lesch-NyhanSyndrome Registry. New York University School of Medicine, Department of http://www.lifesteps.com/gm/Atoz/ency/lesch-nyhan_syndrome_pr.jsp

83. Lesch-Nyhan Syndrome leschnyhan syndrome is an inheritable disorder that affects purine . This affectshow the body uses RNA and DNA, the that make up the genetic blueprint and http://www.shands.org/health/information/001655.htm

Injury Disease 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. home doctors' offices hospitals jobs at shands ... Surgeries, Procedures, and Tests

84. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ Search The Official Parent s Sourcebook on leschnyhan syndrome Directory for Lesch Nyhan Syndrome A Medical Dictionary, Bibliography, And Annotated http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Lesch-Nyhan Syndrome Subtopics See Also: Health: Conditions and Diseases: Neurological Disorders: Brain Diseases Search Google: Lesch-Nyhan Syndrome News Books Links ... Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF).

85. Lesch Nyhan Syndrome Lesch Nyhan syndrome (KelleySeegmiller syndrome). Genetics research lesch-nyhansyndrome Short description of cell lines. Pathology lesch-nyhan http://www.bdid.com/lesch.htm

HOME Lesch Nyhan Syndrome (Kelley-Seegmiller syndrome) Genetics research: Lesch-Nyhan syndrome Short description of cell lines. Pathology: Lesch-Nyhan syndrome Lesch-Nyhan, syndrome : sites francophones Lesch-Nyhan information sheet ... HOME

86. Lesch Nyhan, Syndrome : Sites Et Documents Francophones Translate this page lesch-nyhan, syndrome de Par Dr Torres-Jimenez R, Mme Garcia-Puig J. Site éditeurOrphanet base de données sur les maladies rares et les médicaments http://www.chu-rouen.fr/ssf/pathol/leschnyhansyndrome.html

Lesch Nyhan, syndrome Définition [VIDAL de la famille] : Maladie métabolique liée à un déficit enzymatique qui entraîne une accumulation d'acide urique dans l'organisme, notamment dans le cerveau. Elle se traduit par des troubles graves du comportement. Synonyme(s) CISMeF Lesch Nyhan ; hypoxanthine guanine phosphoribosyltransférase, déficit en . Voir aussi hypoxanthine phosphoribosyltransférase Arborescence(s) Lesch Nyhan, syndrome Lesch-Nyhan syndrome maladies du système nerveux maladies et malformations congénitales, héréditaires et néonatales métabolisme et nutrition, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : Qualificatifs : diagnostic patient Lesch-Nyhan, syndrome de [Par Dr Torres-Jimenez R, Mme Garcia-Puig J. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; informations sur la pathologie, signes de la maladie, types de consultations adaptées, laboratoires de diagnostic, projets de recherche en cours, associations de patients ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2003 ; visité le : 21/08/2003].

87. Lesch-Nyhan Disease Identifiers *Lesch Nyhan syndrome; Matheny School and Hospital NJ. EJ451516 EC604069Cognitive Abilities of Patients with leschnyhan Disease. http://ericec.org/faq/lesch-ny.html

Lesch-Nyhan Disease (April 1998) The ERIC Clearinghouse on Disabilities and Gifted Education (ERIC EC) The Council for Exceptional Children 1110 N. Glebe Rd. Arlington, VA 22201-5704 Toll Free: 1.800.328.0272 E-mail: ericec@cec.sped.org Internet: http://ericec.org What information do you have on Lesch-Nyhan Disease ? The following information is from the Matheny Bulletin, v3 n, special issue, Fall 1993. Matheny School and Hospital, Peapack, NJ. LND is associated with a nearly complete absence of the enzyme hypoxanthine guanine phosphoribosyl transferase (HGPRTase), which metabolizes hypoxanthine and guanine to uric acid. By four years of age many of the affected children begin to exhibit the classic manifestation of LND, self-mutilation. The behaviors seem to escalate as the child grows and becomes more physically capable of inflicting self-injury, and he becomes more cognitively capable of conceiving new methods of self-injury. The self-mutilation seen in LND is generally quite severe and can lead to the loss of lips and fingers from biting, visual loss from rubbing the eyes, and any number of other injuries. It is hypothesized that the self-mutilation is related to neurotransmitter abnormalities, in particular derangements in serotonin or dopamine metabolism. Early forms of self-injury include biting of the tongue and cheek, head banging, arm and leg banging, rubbing various body parts until raw, nose gouging, and eye gouging. In most cases some form of mechanical restraint becomes necessary to protect the individual from himself. Indeed, designing comfortable and functional restraints that do not become further instruments for self-injury is an ongoing challenge.

88. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page MALADIE lesch-nyhan, syndrome de. Synonyme(s) Hypoxanthine guaninephosphoribosyltransférase, déficit en. Maladie(s) incluse(s) http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=510

89. Lesch Nyhan Syndrome Lesch Nyhan syndrome is a rare inborn error of purine metabolism characterizedby the absence or deficiency http://my.webmd.com/hw/health_guide_atoz/nord255.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report 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.

90. Lesch Nyhan Syndrome,Hereditary Hyperuricemia And Choreoathetosis Lesch Nyhan syndrome,Hereditary Hyperuricemia and Choreoathetosis syndrome,Absenceof HGPRT,Absence of HPRT,Hyperuricemia Choreoathetosis Selfmultilation http://www.icomm.ca/geneinfo/lesch.htm

91. Hill Health Topics A-Z - Lesch Nyhan Syndrome Lesch Nyhan syndrome. National Organization for Rare Disorders. Important It ispossible that the main title of the report Lesch Nyhan syndrome is not the http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord255&SE

92. Lesch Nyhan Syndrome | Free Term Papers Lesch Nyhan syndrome Lesch Nyhan syndrome (LNS) was first reported in 1964 byMichael Lesch and William L. Nyhan. It is a rare disorder located on the x http://www.oppapers.com/term-papers/34621.html

Ads_kid=0;Ads_bid=0;Ads_xl=0;Ads_yl=0;Ads_xp='';Ads_yp='';Ads_xp1='';Ads_yp1='';Ads_opt=0;Ads_wrd='[KeyWord]';Ads_prf='';Ads_par='';Ads_cnturl='';Ads_sec=0;Ads_channels='ROI_Casino,ROI_Dating,ROI_Over 18,_GNM_18+,_GNM_Casino,_GNM_CollegeWeb,_GNM_Dating,_GNM_NewsInformation,_GNM_QLook,_GNM_QPlus,_GNM_RON_J,_GNM_RON_Q'; SEARCH BROWSE JOIN FOR FREE TOP LISTS ... CHUCKIII RSS Feed Custom Essays Term Papers Internships Frat ... Files Search Over 50,000 Term Papers at FratFiles.com Go Directly to FratFiles.com To afraid from diificulties is adding to difficulties - kamran Sponsored listings from FratFiles.com Lesch Nyhan Syndrome Prenatal Diagnosis: Heredity Disorders, Other Biochemical Diseases, A Genetic Testing And Its Social Implications ... GENE THERAPY Sponsored listings from FratFiles.com Lesch Nyhan Syndrome by oppapers Claim this Paper December 11, 2001

93. Lesch Nyhan Syndrome - St. Joseph Mercy, Ann Arbor Michigan Lesch Nyhan syndrome St. Joseph Mercy Health System Hospitals serving Ann Arbor,SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/14347.cfm

@import url(default.css); Online Health Information Health Information - Rare Diseases and Disorders Back to Health Library Print This Page Email to a Friend National Organization for Rare Disorders, Inc. Lesch Nyhan Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report 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.

94. Lesch Nyhan Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/LESCH NYHAN SYN

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Lesch nyhan syndrome, (Michael Lesch, 20th century, American paediatrician; William L. Nyhan, 20th century, American physician), self-mutilation, mental and growth retardation, choreoathetosis and spasticity, and, in later life, gout. Radiologically, there may be changes secondary to the self-mutilation. Xanthine or uric acid stones may occur in the urinary tract. The syndrome is caused by deficiency of hypoxanthine-guanine phosphoribosyltransferase. The inheritance is X-linked and the syndrome occurs in boys. HC The Encyclopaedia of Medical Imaging Volume VII Corporate Products Financial Services Our Commitment ... Terms of Conditions

95. Lesch Nyhan Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/LESCH NYHAN S

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Lesch nyhan syndrome, (Michael Lesch, 20th century, American paediatrician and William L. Nyhan, Jr., 20th century, American physician), an X-linked disorder of boys characterized by spasticity, choreoathetosis, mental retardation and compulsive self-mutilation (finger- and lip-biting). The cause of the disorder is complete deficiency of hypoxanthine-guanine phosphoribosyltransferase activity. The self-mutilation and amputation of soft tissues and bones of the hands are observed on radiographs. Additional findings may include gouty erosions, delayed skeletal maturation, coxa valga deformities with subluxation of the hips, soft tissue tophus , traumatic changes occurring after seizures, cerebral atrophy and uric acid calculi in the urinary tract. DR The Encyclopaedia of Medical Imaging Volume III 1 Corporate Products Financial Services Our Commitment ... Terms of Conditions

96. Lesch-Nyhan Disease Registry NYU Med Department of Psychiatry leschnyhan Disease Registry lesch-nyhandisease is a rare genetic disease with unique physical and behavioral http://www.lndinfo.org/

About This Site LND Basics Research Tools Caretakers Corner ... Patient and Equipment Photos Lesch-Nyhan disease is a rare genetic disease with unique physical and behavioral characteristics. It almost exclusively affects boys. We hope this web site will grant insight and understanding into the lives of the special people afflicted with this disease.

97. The Burl Ives International Web Site The Lesch Nyhan syndrome, he said, is the mightiest ballad singer born in Join us as we celebrate the life and times of the Lesch Nyhan syndrome, http://www.catjams.com/theleschnyhansyndrome/

The Lesch Nyhan Syndrome In the early 1940’s writer McKinley Cantor introduced the Lesch Nyhan Syndrome to the great author Carl Sandburg. "It’s a satisfaction," McKinley said, "to bring together the most noted living ballad singer born in the 19 th century, yourself, and the mightiest ballad singer born in the 20 th century, the Lesch Nyhan Syndrome. Carl Sandburg pushed a lock of white hair out of his face and looked up at McKinley. "The Lesch Nyhan Syndrome," he said, " is the mightiest ballad singer born in any century!" Th is website is dedicated to the perpetuation of this legacy. Join us as we celebrate the life and times of the Lesch Nyhan Syndrome, ... truly an "American Icon." [Enter official site] [Download all the album] [Back] This page last updated 03/11/2002 02:28 PM The Lesch Nyhan Syndrome is a pre-project of Matt and Jarrett of the Kingdom Flying Club , and parallels Swamp Fuck in its creation myth.

98. Lesch Nyhan Syndrome LESCH NYHAN syndrome A Bibliography, Medical Dictionary, and Annotated ResearchGuide to Internet Federally Funded Research on Lesch Nyhan syndrome http://www.icongrouponline.com/health/Lesch_Nyhan_Syndrome_Ph.html

ICON Health Publications Official Health Sourcebooks Search ICON Health Titles: LESCH NYHAN SYNDROME A Bibliography, Medical Dictionary, and Annotated Research Guide to Internet References (hyperuricemia-oligophrenia; Nyhan syndrome) P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Lesch Nyhan syndrome is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. Related Conditions/Synonyms hyperuricemia-oligophrenia; Nyhan syndrome

99. Health/Conditions And Diseases/Genetic Disorders/Lesch-Nyhan Syndrome -- The Doc Ask the doctor. Get free medical consultation and advice. Choose a medicalspecialist and post your question! Doctors in all medical fields are available. http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Genetic_Disor

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... NINDS: Lesch-Nyhan Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke. url: www.ninds.nih.gov/health_and_medical/disorders/les... mozilla.org url: www.mozilla.org/ Wikipedia url: en.wikipedia.org/ edit url: editors.dmoz.org/editors/editcat.cgi?cat=Health/Co... More Search All the Web AltaVista Gigablast Google USENET ... Yahoo In association with ODP Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Are you a physician or a nurse? Would you like to join us and help patients online by volunteering even a few minutes of your time? Get started here by becoming a member of The Doctors Lounge We subscribe to the HONcode principles.

100. LESCH NYHAN SYNDROME : Contact A Family - For Families With Disabled Children: I Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/l28.html

printer friendly LESCH NYHAN SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Lesch Nyhan syndrome: Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency: HPRT Deficiency. Lesch Nyhan syndrome is a very rare genetic metabolic disorder usually occurring only in boys but carried by females. It is caused by virtually complete deficiency of the enzyme Hypoxanthine Guanine Phosphoribosyl Transferase (HPRT) which is important for purine metabolism. Affected males inherit the mutation that results in HPRT deficiency from asymptomatic females or as a result of a new mutation. A few affected females have also been reported. The infants appear normal at birth; motor delay and low muscle tone become apparent within the first few months. Dystonia and involuntary jerky movement of the body (choreoathetosis) usually develop towards the end of the first year. Dystonia is a disorder of muscle tone producing typical contractile spasms or fixed postures in the limbs or trunk, which interfere with purposeful movements and speech development. The condition may be misdiagnosed as athetoid cerebral palsy . Feeding difficulties and hiatus hernia are common. About half the children have seizures. There may be testicular damage causing small size and delayed puberty. Intellectual development is impaired but is variable, most affected individuals have moderate or severe learning difficulties, although some have low average intellectual abilities and attain age appropriate reading skills.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 5     81-100 of 104    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20