1. Genetics Research: Lesch-Nyhan Syndrome leschnyhan syndrome. Principal Investigator Pragna I. Patel, Ph.D. http://www.bcm.tmc.edu/neurol/research/genes/genes8.html

Lesch-Nyhan Syndrome Principal Investigator: Pragna I. Patel, Ph.D. X-linked recessive disorder About 1 in 100,000 males affected Caused by a deficiency of hypoxanthine phosphoribosyltransferase transferase (HPRT) which is involved in the metabolic salvage of purines Symptoms include mental retardation, choreoathetosis, hyperuricemia and compulsive self-mutilation Our research is aimed at understanding how the human HPRT gene is regulated using in vitro and in vivo approaches. The hierarchy of regulatory elements and proteins specifying neuronal versus constitutive expression of the gene are being studied and will provide insight into the pathophysiology of LNS and allow design of DNA-based therapies. Click on picture for larger view Selected References: Rincon-Limas, D.E., Amaya-Manzanares, F., Nino-Rosales, M.L., Yu, Y-J., Yang, T.P., and Patel, P.I. Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human HPRT gene. Mol. Cell Biol., 15:6561-6571, 1995. Rincon-Limas, D., Geske, R., Xue, J-J., Hsu, C.Y., Overbeek, P.A., and Patel, P.I. 5'-flanking sequences of the human HPRT gene direct neuronal expression in the brain of transgenic mice. J. Neurosci. Res., 38:259-267, 1994.

2. NINDS Lesch-Nyhan Syndrome Information Page Information sheet compiled by the National Institute of Neurological Disorders and Stroke.Category Health Conditions and Diseases lesch-nyhan syndrome...... More about leschnyhan syndrome, Studies with patients, Research literature, Pressreleases, NINDS lesch-nyhan syndrome Information Page Reviewed 07-01-2001 http://www.ninds.nih.gov/health_and_medical/disorders/lesch_doc.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Lesch-Nyhan Syndrome Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Lesch-Nyhan Syndrome Information Page Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Lesch-Nyhan Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Lesch-Nyhan Syndrome? Is there any treatment? 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?

3. Lesch-Nyhan Syndrome HPRT deficiency was first described as the genetic defect in leschnyhan syndrome in 1967 by Seegmiller et al http://www.icondata.com/health/pedbase/files/LESCH-NY.HTM

Pediatric Database (PEDBASE) Discipline: MET Last Updated: 12/23/94 LESCH-NYHAN SYNDROME DEFINTION: An inborn error of purine metabolism characterized by an enzyme deficiency resulting in neurological, renal, and rheumatological manifestations. EPIDEMIOLOGY: incidence: 1/100,000 age of onset: 3-6 months of age (developmental delay) risk factors: familial - x-linked recessive chrom.#: Xq26 gene: hypoxanthine phosphoribosyltransferase (HPRT) M >> W; some female heterozygotes PATHOGENESIS: 1. Background HPRT catalyzes the metabolic salvage of the purine bases hypoxanthine and guanine into nucleotides, inosinic acid, and guanylic acid HPRT deficiency was first described as the genetic defect in Lesch-Nyhan Syndrome in 1967 by Seegmiller et al the HPRT gene has been cloned and is divided into 9 exons - there are 4 autosomal pseudogenes present in the genome 2. Genetic Defect disruption of this salvage pathway in the CNS may result in cells in the brain unable to synthesize required nucleotides genetic heterogeneity exists with points mutations and small deletions making up the majority of mutations within the HPRT gene CLINICAL FEATURES: 1. Neurological Manifestations

4. Lesch Nyhan, Syndrome : Sites Et Documents Francophones Translate this page Lesch Nyhan, Syndrome. Menu général CISMeF. Arborescence(s) du thesaurusMeSH contenant le mot-clé Lesch Nyhan, syndrome lesch-nyhan syndrome http://www.chu-rouen.fr/ssf/pathol/leschnyhansyndrome.html

Lesch Nyhan, Syndrome Menu général CISMeF Voir aussi hypoxanthine phosphoribosyltransférase Arborescence(s) Lesch Nyhan, syndrome Lesch-Nyhan syndrome maladies et malformations congénitales, héréditaires et néonatales métabolisme et nutrition, maladies système nerveux, 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 : patient LNA - Lesch-Nyhan Action - Maladie Génétique association créée par des parents d'enfants atteints par le syndrome de Lesch-Nyhan [Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; langue : français ; format : html ; accès : gratuit ; non parrainé ; visité le : 23/03/2001]. mots clés : * Lesch Nyhan, syndrome type(s) : association patients 20 janvier 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

5. Lesch-Nyhan Syndrome Browse forwards .. Menu. leschnyhan syndrome. Synonyms HGPRT-deficiency http://oxmedinfo.jr2.ox.ac.uk/Pathway/Disease/2059.htm

Metabolic pathway illustrated Browse backwards Browse forwards Menu Lesch-Nyhan Syndrome Synonyms HGPRT-deficiency McKusick No. 1. Physical 2. Neurological Mental retardation. Ataxia may be present. Spastic cerebral palsy. Choreoathetosis. 3. Gastrointestinal 4. Renal Uric acid stones 5. Bone Gouty arthritis 6. Comment [Sex-linked] 7. Haematological 8. Biochemical Hyperuricaemia Uric acid crystalluria. HGPRT measurement in erythrocytes or fibroblasts Enzyme Hypoxanthine guanine phosphoribosyl transferase EC number ................Diagnostics and therapy................ Treatment Allopurinol to reduce serum uric acid and effects of hyperuricaemia . Allopurinol has no effect on the neurological complications of the syndrome. Carrier detection Measurement of enzyme activity in fibroblasts Prenatal diagnosis Measurement of enzyme activity in in amniocytes or chorionic villus sample. Expand periodical title abbreviations MBID (1989) Chapter 38 This page last modified 11 Feb 1996. Pathway Webmaster, Oxford, UK

6. Mylifepath leschnyhan syndrome, a definition, description, a look at the causes and symptoms, diagnosis, treatment, prognosis, prevention and further reading. http://www.mylifepath.com/article/gale/100263024

7. Lesch-Nyhan Syndrome leschnyhan syndrome. Versione italiana. lesch-nyhan syndrome is aninborn error in the metabolism of purines. It is caused http://www.webst.it/lesch-nyhan/engl2.htm

Lesch-Nyhan Syndrome Versione italiana L esch-Nyhan Syndrome is an inborn error in the metabolism of purines. It is caused by a deficency in the hypoxanthine-guanine phosphoribosiltransferase(HPRT). The enzime abnormality results from mutations in the gene in the long arm of the X chromosome. The expression is generally fully recessive, making this a disease virtually exclusively of males. However, a very few females have recently been diagnosed with the disease. Sometimes the disease is misdiagnosed due to certain similarities to other brain disorders such as cerebral palsy. Appropriate laboratory tests must be conducted to assure an accurate diagnosis. The fully developed clinical picture is readily recognized, but the earliest presentation may be very subtle. The enzyme defect leads to massive accumulation of uric acid hyeruricemia and increases quantities of urinary urate. This result is often first manifested in collections of whath looks like orange sand in the diaper. Hematuria may be an early sign, and patients have been presented with calculi or obstructive uropathy, even in early infancy. Motor and neurologic development may be normal at first. In some, arching of the back or opisthotonos may occur early. there may be hypotonia or poor head control in the infant fails to sit unsupported. If this milestone had been attained, the infant loses the ability. Patients with this disease have not learned to walk.

8. Lesch-Nyhan Syndrome leschnyhan syndrome is an inborn error in the metabolism of purines. It is caused by a deficency in the hypoxanthine-guanine phosphoribosiltransferase(HPRT). http://www.split.it/users/Lesch-Nyhan/Engl2.htm

Lesch-Nyhan Syndrome Versione italiana L esch-Nyhan Syndrome is an inborn error in the metabolism of purines. It is caused by a deficency in the hypoxanthine-guanine phosphoribosiltransferase(HPRT). The enzime abnormality results from mutations in the gene in the long arm of the X chromosome. The expression is generally fully recessive, making this a disease virtually exclusively of males. However, a very few females have recently been diagnosed with the disease. Sometimes the disease is misdiagnosed due to certain similarities to other brain disorders such as cerebral palsy. Appropriate laboratory tests must be conducted to assure an accurate diagnosis. The fully developed clinical picture is readily recognized, but the earliest presentation may be very subtle. The enzyme defect leads to massive accumulation of uric acid hyeruricemia and increases quantities of urinary urate. This result is often first manifested in collections of whath looks like orange sand in the diaper. Hematuria may be an early sign, and patients have been presented with calculi or obstructive uropathy, even in early infancy. Motor and neurologic development may be normal at first. In some, arching of the back or opisthotonos may occur early. there may be hypotonia or poor head control in the infant fails to sit unsupported. If this milestone had been attained, the infant loses the ability. Patients with this disease have not learned to walk.

9. HONselect - Lesch-Nyhan Syndrome English leschnyhan syndrome, - Choreoathetosis Self-Mutilation Hyperuricemia Syndrome- Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease - Complete 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 Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.228.140.163.474.430.html

10. Lesch-Nyhan Syndrome leschnyhan syndrome. lesch-nyhan syndrome is a rare X-linked recessive disorder affecting approximately 1 out of 400 000 http://www.tylermedicalclinic.com/lesch-nyhan%20syndrome.htm

The Tyler Medical Clinic Assisted Conception - Affordable Infertility Treatments - List of Diseases - Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome is a rare X-linked recessive disorder affecting approximately 1 out of 400,000 males. It is characterized by excessive levels of uric acid in the blood, which may eventually lead to kidney damage. Its symptoms include muscle spasms that cause jerky movements, and self-injurious behavior such as compulsive biting of lips and tongue. The pathology for these symptoms is not clearly understood. Lesch-Nyhan Syndrome may also lead to physical and mental retardation as well as Nephrolithiasis , urinary tract stones and may impact brain development. Symptoms of Lesch-Nyhan Syndrome usually present themselves early in infancy. Sand-like crystals appear in diapers of infants. Infants affected with Lesch-Nyhan Syndrome may also seem unusually irritable and unable to lift his or her head at age 4-6 months. They may also display uncontrolled writhing motions and have poor motor development. There is currently no cure for Lesch-Nyhan Syndrome. Treatments include medication to lower uric acid levels in the blood. Patients must closely monitor their fluid intake to ensure that they are well hydrated. Parents with children inflicted with Lesch-Nyhan Syndrome must take special precautions in their household, such as padding any sharp corners, to prevent further injury when their children uncontrollably engage in self-destructive behavior.

11. Special Child: Disorder Zone Archives - Lesch-Nyhan Syndrome Disorder Zone Archives. leschnyhan syndrome Ernie Burford. Introduction. Ernie wasdiagnosed with Lesch Nyhan syndrome 16 1/2 years ago. He is now 17 years old. http://www.specialchild.com/archives/dz-031.html

Disorder Zone Archives Lesch-Nyhan Syndrome Ernie Burford Introduction 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. LNS has been reported to occur in 1 out of every 100,000 live births. It is estimated that there are only several hundred individuals with the disorder in the United States. LNS has been found equally among all races and ethnic groups, however as an X-linked disorder, nearly all cases are male. LNS can either be inherited or it can occur as a spontaneous (or new) mutation. LNS was first described by Michael Lesch, M.D. and William Nyhan, M.D., Ph.D. in 1964 when they reported two affected brothers. The enzymatic defect was discovered by Seegmiller and colleagues in 1967. Finally, the gene responsible for LNS was cloned and sequenced by Friedmann and colleagues in 1985. Features and Characteristics The following characteristics have been identified in individuals with LNS: Hyperuricemia (overproduction of uric acid) Urate crystal formation (orange, crystal-like deposits found in the urine, caused by the overproduction of uric acid)

12. Lesch-Nyhan Syndromehttp//www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?308000 - leschnyhan syndrome (LNS) is a rare genetic disorder characterized by an overproduction of uric acid, neurological disability, and behavioral problems. http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?308000

13. EMedicine - Lesch-Nyhan Syndrome : Article By Hyder A Jinnah, MD, PhD leschnyhan syndrome. Background Michael Lesch and William Nyhan provided thefirst detailed clinical description of lesch-nyhan syndrome in 1964. http://www.emedicine.com/neuro/topic630.htm

document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Neurology Pediatric Neurology Lesch-Nyhan Syndrome Last Updated: January 25, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: HPRT deficiency, Kelley-Seegmiller syndrome, Lesch-Nyhan disease AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Hyder A Jinnah, MD, PhD , Assistant Professor, Neurology, Johns Hopkins University Hospital Hyder A Jinnah, MD, PhD, is a member of the following medical societies: Maine Medical Association Editor(s): Robert Baumann, MD , Program Director, Professor, Departments of Neurology and Pediatrics, University of Kentucky; Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, Pharmacy, eMedicine; Kenneth J Mack, MD, PhD , Senior Associate Consultant, Child and Adolescent Neurology, Mayo Clinic; Selim R Benbadis, MD

14. EMedicine - Lesch-Nyhan Syndrome : Article Excerpt By: Hyder A Jinnah, MD, PhD Excerpt from leschnyhan syndrome. Synonyms, Key disease. Please clickhere to view the full topic text lesch-nyhan syndrome. Background http://www.emedicine.com/neuro/byname/lesch-nyhan-syndrome.htm

(advertisement) Excerpt from Lesch-Nyhan Syndrome Synonyms, Key Words, and Related Terms: HPRT deficiency, Kelley-Seegmiller syndrome, Lesch-Nyhan disease Please click here to view the full topic text: Lesch-Nyhan Syndrome Background: Michael Lesch and William Nyhan provided the first detailed clinical description of Lesch-Nyhan syndrome in 1964. The enzymatic defect associated with Lesch-Nyhan syndrome, deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT), was discovered by Seegmiller and colleagues in 1967. The gene encoding the enzyme was cloned and sequenced by Friedmann and colleagues in 1985. Lesch-Nyhan syndrome is a genetic disorder associated with 3 major clinical elements. These elements include overproduction of uric acid, neurological disability, and behavioral problems. The overproduction of uric acid is associated with hyperuricemia. If left untreated, it can produce nephrolithiasis with renal failure, gouty arthritis, and solid subcutaneous deposits known as tophi. The neurological disability encompasses a spectrum of extrapyramidal signs, including dystonia, choreoathetosis, and occasionally ballismus. Some patients also develop pyramidal signs, such as spasticity and hyperreflexia. The behavioral problems include cognitive dysfunction and aggressive and impulsive behaviors. Nearly all patients also develop persistent and severe self-injurious behavior. Treatment of the condition is limited. Allopurinol is useful to control the overproduction of uric acid and reduces the risk of nephrolithiasis and gouty arthritis. Few treatments have proved consistently helpful for the neurological or behavioral difficulties. Spasticity is managed with a combination of baclofen and benzodiazepines, while the behavioral abnormalities are best managed by a combination of behavioral modification techniques and medications.

15. Short Description Of Cell Lines. Pathology Lesch-Nyhan Syndrome Version 4.200205, Short description of cell lines. Pathology LeschNyhansyndrome *308000 OMIM record. - By selecting the cell line http://www.biotech.ist.unige.it/cldb/pat28.html

16. Lesch-Nyhan Syndrome leschnyhan syndrome. Definition. lesch-nyhan syndrome is a rare geneticdisorder that affects males. Males with this syndrome http://www.healthatoz.com/healthatoz/Atoz/ency/lesch-nyhan_syndrome.html

Encyclopedia Index L Home Encyclopedia Encyclopedia Index L Lesch-Nyhan syndrome 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.

17. Lesch-Nyhan Syndrome leschnyhan syndrome Guide picks. Brain Waves Brain Waves article on genes andlesch-nyhan syndrome, from Johns Hopkins Neurology and Neurosurgery. http://rarediseases.about.com/cs/leschnyhansynd/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Lesch-Nyhan Syndrome Guide picks A genetic disorder resulting in the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), leading to neurological and other physical problems. Association for Rare Diseases Mauro Baschirotto Information, photos of children, personal stories, and guest book. Also available in Italian. Brain Waves Brain Waves article on genes and Lesch-Nyhan syndrome, from Johns Hopkins Neurology and Neurosurgery. Matheny School and Hospital Good information on Lesch-Nyhan syndrome and its behavior management, from a school which specializes in treating the disorder. MCW Health Link Brief information on the disorder from the Medical College of Wisconsin.

18. Lesch-Nyhan Syndrome Email this article. Print this article. Find related articles By topic By keywordsReceive HealthLink via email! Subscribe now . leschnyhan syndrome. http://healthlink.mcw.edu/article/921774523.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: By keywords: Receive Health Link via email! Subscribe now >> 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.

19. MEDLINEplus Medical Encyclopedia: Lesch-Nyhan Syndrome leschnyhan syndrome. Definition lesch-nyhan syndrome is an inheritabledisorder that affects purine metabolism. This affects how http://www.nlm.nih.gov/medlineplus/ency/article/001655.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Lesch-Nyhan syndrome Contents of this page: Definition Causes, incidence, and risk factors Symptoms Signs and tests ... 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.

20. NINDS Lesch-Nyhan Syndrome Information Page More about NINDS leschnyhan syndrome Information Page. Content for thispage. NINDS lesch-nyhan syndrome Information Page. Reviewed 07-01-2001. http://accessible.ninds.nih.gov/health_and_medical/disorders/lesch_doc.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Lesch-Nyhan Syndrome Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Lesch-Nyhan Syndrome Information Page Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Lesch-Nyhan Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Lesch-Nyhan Syndrome? Is there any treatment?

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