41. Wordbank On The Mental Health Foundation Website leschnyhan syndrome. spacer. An inheritable disorder which is seen only in malesdue to an X (male) chromosome abnormality. Affected males have delayed http://www.mentalhealth.org.uk/wordbank.cfm?wordid=179&wbletter=L

42. Lesch-Nyhan Syndrome Information Diseases Database leschnyhan syndrome,Hypoxanthine-guanine phosphoribosyltranferase deficiency,Disease Database Information. http://www.diseasesdatabase.com/ddb7415.htm

Diseases Database Index Sponsors Contact ... Previous Page Lesch-Nyhan syndrome information Search 2 synonyms or equivalents were found. Lesch-Nyhan syndrome aka/or Hypoxanthine-guanine phosphoribosyltranferase deficiency may cause or feature (Follow link for list.) belong(s) to the category of (Follow link for list.) Lesch-Nyhan syndrome: Definition(s) via UMLS Code translations and terms via UMLS Lesch-Nyhan syndrome: specific web sites Send Lesch-Nyhan syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 10:14:22 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Content is not asserted complete or error free, please see also our

43. Lesch-nyhan00.html leschnyhan syndrome LNS, is comparatively rare condition in which afflictedpersons are prone to severe self-mutilation (eg chewing off their lips and http://www.indiana.edu/~pietsch/lesch-nyhan00.html

LESCH-NYHAN SYNDROME, Preliminary Remarks Lesch-Nyhan syndrome [LNS] , is comparatively rare condition in which afflicted persons are prone to severe self-mutilation (e.g. chewing off their lips and fingers). The syndrome (go here for general information) is a manifestation of a recessive, X-linked error of metabolism an enzyme deficiency of purine metabolism. In more recent years, LNS, has become the subject of both laboratory and clinical investigations. What follows are the hyperlinks to the results of searches of MEDLINE conducted at Indiana University, Bloomington, Indiana. The items were compiled by SilverPlatter and are presented with their generous cooperation and permission. ( See SilverPlatter's Worldwide Library for bibliographic search information go to the ShuffleBrain main menu web contact: pietsch@indiana.edu

44. PharmGKB: Lesch-Nyhan Syndrome Deficiency Disease; HypoxanthinePhosphoribosyl-Transferase Deficiency Diseases;Lesch Nyhan Disease; Lesch Nyhan Syndrome; Lesch-Nyhan Disease http://www.pharmgkb.org/do/serve?objId=PA444748&objCls=Disease

45. Lesch-Nyhan Syndrome leschnyhan syndrome lesch-nyhan syndrome (LNS) is a rare inherited disease thatdisrupts the metabolism of the raw material of genes. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect

46. Caremark.com leschnyhan syndrome is a rare genetic disorder that affects males. Lesch-Nyhansyndrome was first described in 1964 by Dr. Michael Lesch and Dr. http://www.caremark.com/wps/portal/_s.155/5522/.cmd/ad/.pm/-/.c/1703/.ce/5535/.p

47. JAX®Mice Database - Mouse/Human Gene Homologs: Lesch-Nyhan Syndrome JAX®MICE Database Mouse/Human Gene Homologs lesch-nyhan syndrome List. http://jaxmice.jax.org/jaxmicedb/html/model_1014.shtml

Strain Information Services Information JAX Mice Literature Order Mice ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: Lesch-Nyhan syndrome" Strains Newly Available for all Mouse/Human Gene Homologs models. Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply 129S8/SvEv- c b-m2 /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. (2 stocks) Back to top Back to Top Research Research Resources ... The Jackson Laboratory

48. Medicdirect - Comprehensive UK Health Information leschnyhan syndrome is an abnormality in metabolism causing movement and lesch-nyhan syndrome occurs rarely, in approximately one in every two hundred http://www.medicdirect.co.uk/diseases/default.ihtml?pid=1993&step=4

49. Lesch-nyhan Syndrome - Definition From Biology-Online.org Definition and other additional information on leschnyhan syndrome fromBiology-Online.org dictionary. http://www.biology-online.org/dictionary/lesch-nyhan_syndrome

Forum Tutorials Dictionary Directory ... L lesch-nyhan syndrome Lesch-Nyhan syndrome (Science: syndrome) A sex-linked recessive inherited disease in humans that results from mutation in the gene for the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HGPRT), located on the X chromosome Results in severe mental retardation . It is characterised by physical and mental retardation , and distressing behavioural abnormalities , such as compulsive self mutilation hyperuricaemia , and choreoathetosis , and renal failure Excess uric acid production ... exists due to the absence of an enzyme essential to purine metabolism Inheritance sex-linked ... recessive Search the dictionary About Us Contact Us Link to Us Chemistry ... Equations

50. UNSW Embryo- Abnormal Development - Lesch-Nyhan Syndrome For more details see Abnormal Development lesch-nyhan syndrome. Lesch-NyhanSyndrome (LNS) was discovered over 30 years ago as an inborn error of purine http://embryology.med.unsw.edu.au/Defect/leschnyhan.htm

UNSW Embryology Abnormal Development - Lesch-Nyhan Syndrome Acknowledgements Lesch-Nyhan Syndrome (LNS) For more details see Abnormal Development - Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome (LNS) was discovered over 30 years ago as an inborn error of purine metabolism by Nyhan et al ( J. Pediat. 67: 257-263, 1965). Two years later, the biochemistry has been resolved by Seegmiller et al. ( Science 1967 Mar 31;155(770):1682-4). LNS is a rare, genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase or HPRT. Many mutations have been identified in a gene on the long arm of the X chromosome in patients with Lesch-Nyhan disease. These mutations lead to a virtually complete loss of function of the enzyme HPRT LNS is transmitted as and X-linked recessive trait. Female carriers do not show the symptoms. 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.The deficiency of HPRT activity leads to accumulation of phosphoribosylpyrophosphate. The disruption of this salvage pathway in the CNS may result in cells in the brain unable to synthesize required nucleotides.

51. NORD - National Organization For Rare Disorders, Inc. leschnyhan syndrome is a rare inborn error of purine metabolism Uric acidlevels are abnormally high in people with lesch-nyhan syndrome and sodium http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Lesch Nyhan S

52. Lesch-Nyhan Syndrome: Deficiency Of HGPRT http://seqcore.brcf.med.umich.edu/mcb500/na/leschnyhan.html

53. BabyCenter | Community: BBS - Physical Development Concerns | Lesch-Nyhan Syndro leschnyhan syndrome . Posts 1 Last Post Aug 5, 2005, 729 PM (PDT). JOIN INSee all Boards • Create a new thread • Add a message http://bbs.babycenter.com/board/toddler/toddlerdevelopment/6595/thread/2349230

var ACM, oPopup, oDefPopup, offsetTop=10, offsetLeft=10; You seem to have disabled JavaScript. To take full advantage of our site and functionality, we recommend you enable Javascript. How? document.write(''); Preconception Pregnancy Baby Toddler ... Physical development concerns "Lesch-Nyhan Syndrome" Posts: Last Post: Aug 5, 2005, 7:29 PM (PDT) JOIN IN: See all Boards Create a new thread Add a message WATCHES: My watches Start watching this thread HOW TO: Getting started Community Guidelines Help victims of Hurricane Katrina Wish you could do something? Click here to donate to the American Red Cross. Back to Physical development concerns Messages First Last Author: hook722 Aug 5, 2005 , 7:29 PM (PDT) I am looking for other parents out there that have a son with this genetic disorder. I am in a Yahoo group but the boys seem older than my 20 month old son. At one point I stumbled across a chat group but I don't remember how I got there. I am in real need of more support on this very rare condition. Any help would be appreciated. Ranae mom to Olivia 9/97 Ethan 10/99 Madilyn 11/01 Kenneth 11/03 (LNS) Add a post Quote this post First Last ... My watches Back to Physical development concerns More threads on Physical development concerns Still breastfeeding at 15 months Does your baby not talk but seem to understand?

54. Lesch-Nyhan Syndrome leschnyhan syndrome is an inborn error in the metabolism of purines. It is causedby a deficency in the hypoxanthine-guanine 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.

55. Lesch-Nyhan Syndrome Home Health Encyclopedia leschnyhan syndrome counseling for prospectiveparents with a family history of lesch-nyhan syndrome is recommended. http://www.healthcentral.com/ency/408/001655prv.html

Dr. Dean TV Specials Newsletters Home ... Health Tools Search Choose a Health Topic * All Health Topics * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks Disabled/Special Needs Drug Abuse Ear/Nose/Throat Eating/Appetite Eczema Encephalitis Eye/Vision Fatigue Fever Flu Food Poisoning Foot Gallbladder Gastrointestinal Genetic/Congenital GERD/Heartburn Hair Loss Hair/Scalp Headache Hearing Heart Disease, Stroke Heat/Sunstroke Hepatitis Hernia Herpes High Blood Pressure Hormonal Immune Disorders Immunizations/Vaccines Impotence Incontinence/Bladder Infections Injuries Kidney/Urinary Kids Learning Disabilities Liver Lung Cancer Men Menopause, Postmenopause Migraine Mobility/Balance Multiple Sclerosis Muscle Neural Nosebleeds Pain Parasites Pituitary PMS Pregnancy Prostate Cancer Prostate Disorders Psoriasis Psychological Raynaud's Disease Respiratory Reye Syndrome Rheumatoid Arthritis Schizophrenia Seniors Sensory Sexually Transmitted Disease Skin Sleep Speech Disorders Spinal Thyroid Trauma Weight Loss Women Yeast Infections Home Health Encyclopedia Lesch-Nyhan syndrome Lesch-Nyhan syndrome Injury Disease Nutrition Poison ... Prevention Lesch-Nyhan syndrome Prevention: Genetic counseling for prospective parents with a family history of Lesch-Nyhan syndrome is recommended. The carrier state of the mother may be determined by culture of skin fibroblasts. Half the fibroblasts will have normal levels of the HGP enzyme and the remaining half will have deficient or absent HGP.

56. Lesch-Nyhan Syndrome No specific treatment exists for leschnyhan syndrome. Allopurinol has been tried,and although it decreases the uric acid concentrations, http://www.healthcentral.com/ency/408/001655trt.html

Dr. Dean TV Specials Newsletters Home ... Health Tools Search Choose a Health Topic * All Health Topics * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks Disabled/Special Needs Drug Abuse Ear/Nose/Throat Eating/Appetite Eczema Encephalitis Eye/Vision Fatigue Fever Flu Food Poisoning Foot Gallbladder Gastrointestinal Genetic/Congenital GERD/Heartburn Hair Loss Hair/Scalp Headache Hearing Heart Disease, Stroke Heat/Sunstroke Hepatitis Hernia Herpes High Blood Pressure Hormonal Immune Disorders Immunizations/Vaccines Impotence Incontinence/Bladder Infections Injuries Kidney/Urinary Kids Learning Disabilities Liver Lung Cancer Men Menopause, Postmenopause Migraine Mobility/Balance Multiple Sclerosis Muscle Neural Nosebleeds Pain Parasites Pituitary PMS Pregnancy Prostate Cancer Prostate Disorders Psoriasis Psychological Raynaud's Disease Respiratory Reye Syndrome Rheumatoid Arthritis Schizophrenia Seniors Sensory Sexually Transmitted Disease Skin Sleep Speech Disorders Spinal Thyroid Trauma Weight Loss Women Yeast Infections Home Health Encyclopedia Lesch-Nyhan syndrome Lesch-Nyhan syndrome Injury Disease Nutrition Poison ... Prevention Lesch-Nyhan syndrome Treatment: No specific treatment exists for Lesch-Nyhan syndrome. Allopurinol has been tried, and although it decreases the uric acid concentrations, it does not improve the neurological outcome.

57. Lesch-Nyhan Syndrome Topic - Unified Search Environment NYHAN SYNDROME DXP/SY/NOCODE LeschNyhan Disease MSH/EN/D007926 MSH/PM/D007926 MSH/PM/D007926 HGPRT Deficiency Disease, Complete MSH/EN/D007926 http://www.use.hcn.com.au/portals/shared/subject.`Lesch-Nyhan Syndrome`/home.htm

Lesch-Nyhan Syndrome Topic Tree Definition: An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127) Synonyms and Source Vocabularies: Lesch-Nyhan Syndrome JUVENILE GOUT, CHOREOATHETOSIS, MENTAL RETARDATION SYNDROME Choreoathetosis Self-Mutilation Hyperuricemia Syndrome HEREDITARY HYPERURICEMIA NYHAN SYNDROME Lesch-Nyhan Disease HGPRT Deficiency Disease, Complete Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease HG-PRT deficiency hypoxanthine-guanine phosphoribosyltransferase deficiency Metabolism, Inborn Errors

58. Lesch-Nyhan Syndrome leschnyhan syndrome (Hereditary Hyperuricemia and Choreoathetosis Syndrome;HG-PRT deficiency Federally Funded Research on lesch-nyhan syndrome http://www.icongrouponline.com/health/Lesch-Nyhan_Syndrome.html

ICON Health Publications Official Health Sourcebooks Search ICON Health Titles: The Official Parent's Sourcebook on LESCH-NYHAN SYNDROME (Hereditary Hyperuricemia and Choreoathetosis Syndrome; HG-PRT deficiency syndrome; HGPRT, Absence of; HPRT, Absence of; Hyperuricemia, Choreoathetosis, Self-multilation Syndrome; Hyperuricemia-Oligophrenia; Hypoxanthine-Guanine Phosphoribosyltranferase Defec. (Complete Absense of); hypoxanthine-guanine phosphoribosyltransferase deficiency syndrome; Juvenile Gout, Choreoathetosis, and Mental Retardation Syndrome; Nyhan Syndrome) Revised and Updated for the Internet Age P A P E R B A C K 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 A comprehensive manual for anyone interested in self-directed research on . Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Hereditary Hyperuricemia and Choreoathetosis Syndrome; HG-PRT deficiency syndrome; HGPRT, Absence of; HPRT, Absence of; Hyperuricemia, Choreoathetosis, Self-multilation Syndrome; Hyperuricemia-Oligophrenia; Hypoxanthine-Guanine Phosphoribosyltranferase Defec. (Complete Absense of); hypoxanthine-guanine phosphoribosyltransferase deficiency syndrome; Juvenile Gout, Choreoathetosis, and Mental Retardation Syndrome; Nyhan Syndrome Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Lesch-Nyhan Syndrome: Guidelines

59. Lesch-Nyhan Syndrome leschnyhan syndrome (LNS) is a rare, genetic disorder caused by a deficiency ofthe enzyme hypoxanthine-guanine phosphoribosyltransferase or HPRT. http://www.clevelandclinic.org/health/health-info/docs/1200/1297.asp?index=6035&

60. Lesch-Nyhan Syndrome - New Jersey leschnyhan syndrome - New Jersey - courtesy of Somerset Medical of Somerville,New Jersey. http://www.somersetmedicalcenter.com/1563.cfm

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

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 3     41-60 of 104    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20