81. Health Library Find Information On Lesch-Nyhan Syndrome At leschnyhan syndrome. Definition lesch-nyhan syndrome is an inheritabledisorder that affects purine metabolism. This affects http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

82. F6 Translate this page result in the overproduction of uric acid leading to a severe form of gout, whilsta virtual absence of HPRT activity causes the lesch-nyhan syndrome which is http://autisme.france.free.fr/docs/f6.htm

Retour Base Documentaire SYNDROME DE LESCH-NYHAN L'hypoxanthine-guanine phosphoribosyltransférase catalyse la transformation de l'hypoxanthine en acide isonisique et de la guanine en acide guanosinique (réaction 2, ). Le PRPP sert de donneur de phosphoribosyl. La déficience de l'hypoxanthine-guanine phosphoribosyltransférase entraîne une diminution de la consommation du PRPP dont les taux deviennent supérieurs à la normale. Le PRPP en excès accélère la biosynthèse purique de novo et augmente donc la production d'acide urique. Le syndrome de Lesch-Nyhan est une maladie liée au chromosome X. Les séquences du gène humain de l'HGPRT ont été transférées à la souris via la transplantation de moelle infectée par un vecteur rétroviral et par infection directe de tissu cérébral ar des vecteurs recombinant de virus herpès simplex de type I. Une lignée de souris transgénique exprimant l'enzyme humaine a aussi été établie. Plus récemment, deux souches de souris déficitaires en HGPRT ont été décrites. Aucune de ces souches n'expriment le phénotype pathologique : ces animaux ne constituent donc pas un modéle authentique de Lesch-Nyhan. Les anomalies biochimiques associées conduisant aux dramatiques conséquences neurologiques du syndrome de Lesch-Nyhan sont mal connues. Les véréifications post mortem chez des sujets atteints semblent indiquer une anomalie spécifique des voies dopaminergiques centrales, particulièrement celles des ganglions de la base et du noyau accumbens. Ces constatations sont corroborées in vivo par les études tomographiques en émission de positons (TEP) de malades présentant un déficit en HGPRT. Par cette technique, on met en évidence une anomalie du métabolisme du 2'-fluorodéoxyglucose dans les noyaux caudés chez la majorité des individus étudiés. Les liens unissant les anomalies du système nerveux dopaminergique et les aberrations du métabolisme des purines sont inconnus.

83. Health Library - Lesch Nyhan Syndrome Hometown commitment. Lesch Nyhan Syndrome. leschnyhan syndrome is inheritedas an X-linked recessive genetic disorder that most often affects males. http://www.phoebeputney.com/library/healthguide/IllnessConditions/topic.asp?hwid

84. Health Ency.: Disease: Lesch-Nyhan Syndrome Ency. home Disease L leschnyhan syndrome. lesch-nyhan syndrome. Symptoms. familyhistory of lesch-nyhan syndrome; male infant with delayed motor development; http://www.austin360.com/shared/health/adam/ency/article/001655sym.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease L Lesch-Nyhan syndrome Overview Symptoms Treatment Prevention 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) Ency. home Disease L Please read this Important notice Also Check Out Home Autos Classifieds Events ... Our Sponsors By using Austin360 you accept the terms of our Visitor Agreement . Please read it. Privacy statement Registered site users: edit your profile var v=1.0; v=1.1; v=1.2;

85. Syndrome - L lesch-nyhan syndrome (NINDS); Lesch-Nyhan-Syndrom,Hyperurikämiesyndrom. Little Syndrom Little Syndrom, Krankheit http://www.erzwiss.uni-hamburg.de/personal/hoffmann/syndrome/syn-l.html

Uni Hamburg FB Erziehungswissenschaft Institut 05 Suche ... Links S YNDROME - L Symbole: = Homepage; = Aufsatz, Artikel, Monographie; = Kurzinformation. Lambert Eaton Syndrom Lambert-Eaton Syndrom (LES) Landau Kleffner Syndrom Landau Kleffner Syndrome Parent Support Page, UK Landau Kleffner Syndrome (Family Village) F80.3 erworbene Aphasie mit Epilepsie (Landau-Kleffner-Syndrom) Leigh Syndrom The Mitochondrial and Metabolic Disease Center, University of California San Diego, USA United Mitochondrial Disease Foundation (UMDF), USA Children's Mitochondrial Disease Network, UK MITOMAP - A human mitochondrial genome database ... Leigh Syndrome (OMIM) Lesch Nyhan Syndrom Lesch-Nyhan Page, Italien Lesch-Nyhan Desease (Family Village) Lesch-Nyhan Syndrome (NINDS) Little Syndrom Little Syndrom, Krankheit (Roche Lexikon Medizin) Locked In Syndrom Homepage von Manfred Siegel Homepage von Peter Himmelreich Homepage von Doris Ruckstuhl LIS e.V. ... Links Diese Seite wurde erstellt von Thomas Hoffmann am 10. 7. 2000 (letzte Aktualisierung: 13. 01. 2002).

86. Lesch-Nyhan Disease Severe Disabilities; Special Schools; Speech Impairments; *Symptoms (IndividualDisorders) Identifiers *Lesch Nyhan syndrome; Matheny School and Hospital NJ. 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.

87. Le Syndrome De Lesch-Nyhan Translate this page Maladies rares. Le syndrome de lesch-nyhan. Un enfant sur 100 000 naîtatteint de cette curieuse maladie qu'est le syndrome de lesch-nyhan. http://www.essentielsante.net/Html/MaladiesRares/cadre/120059900.htm

Accueil Maladies rares Le syndrome de Lesch-Nyhan Maladies rares Le syndrome de Lesch-Nyhan Un enfant sur 100 000 naît atteint de cette curieuse maladie qu'est le syndrome de Lesch-Nyhan. Il se traduit surtout par des comportements d'automutilation et une atteinte rénale. Le syndrome de Lesch-Nyhan (SLN) est une maladie génétique très rare liée à un déficit enzymatique en une protéine particulière, l'HGPRT. Le chromosome X est responsable de cette anomalie enzymatique. Les mères sont porteuses de l’anomalie qu’elles transmettent seulement aux garçons. Le SLN se manifeste entre 3 et 6 mois par une tendance à l'automutilation avec autophagie, par morsures au niveau des lèvres, de la langue et des doigts. Ces blessures restent douloureuses. Toutefois, le comportement d'automutilation n'est pas constant. Les enfants atteints ne peuvent malheureusement pas la réprimer et sont bien conscients de leur trouble. Il ne s'agit pas d'un trouble psychiatrique primitif mais d'une véritable atteinte cérébrale liée à la maladie. L’absence de ce signe très évocateur explique le retard fréquent de diagnostic. Des mouvements anormaux des bras et du visage accompagnent constamment la maladie. Il s'agit de mouvements brusques et anarchiques. Il existe également un retard de développement moteur et staturo-pondéral et un déficit mental modéré ou parfois sévère. On constate aussi une hyperuricémie qui se traduit par l'accumulation de cristaux d'acide urique dans les articulations, le système nerveux central et surtout les reins, responsables notamment de coliques néphrétiques et de crises de goutte. Des vomissements, une épilepsie, une diminution du tonus musculaire aux membres inférieurs, une irritabilité et une certaine agressivité peuvent être aussi notés.

88. La Sindrome Di Lesch-Nyhan Translate this page La sindrome di lesch-nyhan. La Sindrome di lesch-nyhan è un errore congenito nelmetabolismo delle purine. E' causata dalla deficienza dell'enzima HPRT. http://www.webst.it/lesch-nyhan/lesch.htm

La sindrome di Lesch-Nyhan English Version Home L a Sindrome di Lesch-Nyhan è un errore congenito nel metabolismo delle purine. E' causata dalla deficienza dell'enzima HPRT. L'anormalità dell'enzima risulta dalle mutazioni nel gene sul "lungo braccio" del cromosoma X. La sua espressione è generalmente completamente recessiva rendendo questa sindrome virtualmente un'esclusività maschile. Tuttavia ad un numero limitatissimo di femmine è stata recentemente diagnosticata la sindrome La diagnosi definitiva richiede un dosaggio dell'enzima negli eritrociti. E' possibile anche la diagnosi per portatrici e quella prenatale nelle famiglie con precedenti pazienti conosciuti. In Italia l’Associazione Malattie Rare " Mauro Baschirotto" di Vicenza è l’unica che si è fatta carico del compito di trovare una possibile soluzione terapeutica e che ha dato la possibilità alle famiglie di contattare esperti e finanziato una ricerca attualmente in corso. Nell'istituto per le Malattie Rare B.I.R.D. ONLUS

89. Lesch Nyhan, Syndrome : Arborescences MeSH Translate this page Lesch Nyhan, syndrome. Leigh, maladie C10.228.140.163.100.412 page CISMeF du motclefLesch Nyhan, syndrome C10.228.140.163.100.425 page CISMeF du motclef http://www.chu-rouen.fr/navimesh/navileschnyhansyndrome.html

Lesch Nyhan, Syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF système nerveux, maladies système nerveux central, maladies encéphalopathies encéphalopathies métaboliques ... Lesch Nyhan, syndrome 27 février 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

90. The Contact A Family Directory - LESCH NYHAN SYNDROME printer friendly, LESCH NYHAN syndrome, Lesch Nyhan syndrome HypoxanthineGuanine Phosphoribosyl Transferase Deficiency HPRT Deficiency. http://www.cafamily.org.uk/Direct/l28.html

printer friendly LESCH NYHAN SYNDROME home more about us in your area conditions information ... how you can help search this site 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.

91. Accueil http://www.orpha.net/associations/LNA/LNA.html

Accueil Accueil Présentation Qu'est ce que le syndrome de Lesch-Nyhan ? 2 - Définition ... Nous contacter LNA Association Française Lesch-Nyhan Action Maladie Génétique Présidente : Mme Conception AGUILERA 5, rue Auguste Renoir 13180 Gignac la Nerthe Tél - fax : 04 74 76 01 98 Secrétariat : 04 42 30 40 46 e-mail : m_genetique@yahoo.fr Marraine de l'association Marielle GOITSCHEL, Sept fois championne du Monde de Ski et deux fois championne Olympique. Décorée de l'Ordre national du Mérite et de la Légion d'Honneur. (c) Conception AGUILERA Auteur : Mme Conception AGUILERA Date de création de la page : 19/06/2002 Date de dernière mise à jour : 28/02/2003

92. Lesch-Nyhan Image that's a link to Genetics Education Center Support Page leschnyhan. Internationallesch-nyhan Disease Association 11402 Ferndale St. http://www.kumc.edu/gec/support/lesch.html

Lesch-Nyhan Lesch-Nyhan Registry New York University School of Medicine Department of Psychiatry 550 First Avenue New York, NY 10016 Phone: (212) 268-3333 Contact: Lowell Anderson, MD International Lesch-Nyhan Disease Association 11402 Ferndale St. Philadelphia, PA 19116 Phone: (215) 677-4206 Also See: National organizations with information on genetic conditions or birth defects - variety of resources Indiana State University metabolic information The Purine Research Society National Organization for Rare Disorders New England Journal of Medicine To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

93. NORD - National Organization For Rare Disorders, Inc. Lesch Nyhan syndrome. To purchase fulltext report ($7.50) Copyright 1986,1990, 1995, 1996, 1998, 2000, 2001 Synonyms of Lesch Nyhan syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Lesch Nyhan S

94. Lesch – Nyhan Syndrome one click For Medical Professionals only. Lesch – nyhan syndrome,,Print this article, (Michael Lesch, 20th century, American http://www.amershamhealth.com/medcyclopaedia/Volume III 1/Lesch Nyhan syndrome.

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required 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

95. Lesch – Nyhan Syndrome, Renal Manifestation click For Medical Professionals only. Lesch – nyhan syndrome, renalmanifestation,, Print this article, (Michael Lesch, 20th century http://www.amershamhealth.com/medcyclopaedia/Volume IV 2/LESCH NYHAN SYNDROME R

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Lesch – nyhan syndrome, renal manifestation, (Michael Lesch, 20th century, American paediatrician and William Nyhan, Jr., 20th century, American physician), an X-linked recessive disorder due to absence of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). Metabolic abnormalities consequent on the lack of HGPRT result in abnormal purine metabolism and excessive uric acid production. The clinical manifestations are mostly neurologic, including choreoathetosis, spasticity, dysarthria, dystonia, cognitive impairment and self-mutilation. Lesch – Nyhan syndrome may also result in the formation of renal calculi, impairment of renal growth because of long-term hyperuricosuria and hyperuricaemia and gout Treatment of Lesch – Nyhan syndrome consists of the administration of allopurinol and alkalinization of urine with bicarbonate. Allopurinol acts by competing with hypoxanthine as a substrate for xanthine oxidase. Allopurinol becomes converted to oxypurinol.

96. Précautions D'emploi Des Spécialités : SYNDROME DE LESCH-NYHAN http://www.biam2.org/www/SpePEMCSYNDROME_DE_LESCH_NYHAN.html

ALLOPURINOL BAYER 100 mg capsules molles ALLOPURINOL BAYER 200 mg capsules molles ALLOPURINOL BAYER 300 mg capsules molles ALLOPURINOL BIOGARAN 100 mg comprimé ALLOPURINOL BAYER 100 mg capsules molles ALLOPURINOL BAYER 200 mg capsules molles ALLOPURINOL BAYER 300 mg capsules molles ALLOPURINOL BIOGARAN 100 mg comprimé ... ZYLORIC 300 mg comprimés

97. Arch Neurol -- Page Not Found Craniocerebral Magnetic Resonance Imaging Measurement and Findings in LeschNyhanSyndrome Author Information James C. Harris, MD; Roland R. Lee, MD; Hyder A http://archneur.ama-assn.org/issues/v55n4/abs/nob7286.html

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

98. NEJM -- Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Le Biochemical evidence of dysfunction of brain neurotransmitters in the LeschNyhansyndrome KG Lloyd, O Hornykiewicz, L Davidson, K Shannak, I Farley, M http://content.nejm.org/cgi/content/abstract/305/19/1106

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 305:1106-1111 November 5, 1981 Number 19 Next Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome KG Lloyd, O Hornykiewicz, L Davidson, K Shannak, I Farley, M Goldstein, M Shibuya, WN Kelley, and IH Fox Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Lloyd, K. G. Fox, I. H. Medline Citation Abstract This article has been cited by other articles: Harris, J. C., Lee, R. R., Jinnah, H. A., Wong, D. F., Yaster, M., Bryan, R. N. (1998). Craniocerebral Magnetic Resonance Imaging Measurement and Findings in Lesch-Nyhan Syndrome. Arch Neurol [Abstract] [Full Text] Gille, A., Liu, H.-Y., Sprang, S. R., Seifert, R. (2002). Distinct Interactions of GTP, UTP, and CTP with Gs Proteins. J. Biol. Chem. [Abstract] [Full Text] Samuel, K, Clarke, A., Ansell, J., Hooper, M. (1993). Age-dependent selection against hypoxanthine phosphoribosyl transferase-deficient cells in mouse haematopoiesis. Development [Abstract] Ernst, M., Zametkin, A. J., Matochik, J. A., Pascualvaca, D., Jons, P. H., Hardy, K., Hankerson, J. G., Doudet, D. J., Cohen, R. M. (1996). Presynaptic Dopaminergic Deficits in Lesch-Nyhan Disease.

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     81-98 of 98    Back | 1  | 2  | 3  | 4  | 5