81. Disease - Lesch-Nyhan Syndrome, North Carolina Disease lesch-nyhan syndrome. Definition lesch-nyhan syndrome is an inheritable disorder that affects purine metabolism. This http://www.uhseast.com/12115.cfm

Back Email Us Search Centers of Excellence ... Disease Management 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. 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

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

83. Lesch-Nyhan leschnyhan. 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 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

84. Lesch Nyhan, Syndrome : Arborescences MeSH Translate this page Lesch Nyhan, syndrome arborescences MeSH. Menu général CISMeF. Vous pouvez aussi consulter toutes les arborescences des mots http://www.chu-rouen.fr/navimesh/L/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 07 janvier 2004 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

85. 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

86. Lesch Nyhan Syndrome Lesch Nyhan syndrome Important It is possible that the main title of the report Lesch Nyhan syndrome is not the name you expected. 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 Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic 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.

87. Lesch Nyhan Syndrome Lesch nyhan syndrome,. Print this article, (Michael Lesch, 20th century, American paediatrician and William L. Nyhan, Jr., 20th century http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/LESCH NYHAN S

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters 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 Contacts GE Healthcare Making Waves

88. Lesch Nyhan Syndrome, Renal Manifestation Lesch nyhan syndrome, renal manifestation,. Print this article, (Michael Lesch, 20th century, American paediatrician and William Nyhan http://www.amershamhealth.com/medcyclopaedia/medical/Volume IV 2/LESCH NYHAN SY

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters 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. The renal calculi formed in patients with Lesch Nyhan syndrome consist primarily of oxypurines: hypoxanthine, xanthine, uric acid and oxypurinol. All four metabolites are radiolucent, but can be imaged with ultrasound as shadowing renal stones within the medulla or collecting system. These patients are more likely to develop renal colic. Additionally, punctate or diffuse increase in echogenicity is seen within the medullary pyramids, probably representing precipitation of metabolites in the collecting tubules. Hyperechoic medulla is a nonspecific sign of Lesch Nyhan syndrome; It is seen in other hypercalciuric states, such as chronic furosemide administration in neonates

89. LESCH NYHAN SYNDROME : Contact A Family - For Families With Disabled Children: I printer friendly, LESCH NYHAN syndrome, Lesch Nyhan syndrome Hypoxanthine Guanine 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 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.

90. Health Library - Lesch Nyhan syndrome. Important It is possible that the main title of the report Lesch Nyhan syndrome is not the name you expected. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

91. Health Library - Lesch Nyhan syndrome. Important It is possible that the main title of the report Lesch Nyhan syndrome is not the name you expected. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

92. Prep For USMLE Step 1 » Lesch Nyhan Syndrome asmi Posts 3816, lesch nyhan syndrome * what is the cause? * what r the symptoms? * how do you diagnose it ? alice8 Posts 483, Re lesch nyhan syndrome http://www.prep4usmle.com/community/topic3768.html

Prep for USMLE Step 1 Forums Prep for USMLE Forums Step 1 Step 2 CK ... lesch nyhan syndrome Author Message asmi Posts: 3853 lesch nyhan syndrome * what is the cause? * what r the symptoms? * how do you diagnose it ? Posts: 483 Re: lesch nyhan syndrome HGPRT deficiency (X-linked recessive) Frequently the first symptom is the presence of orange-colored crystal-like deposits (orange sand,increased levels of uric acid in urine) in the diapers of affected infants.Self mutilation,kidney stones, blood in the urine, pain and swelling of the joints, dysphagia , vomiting, renal failure , irritability, hypotonia, uncontrolled spastic muscle movements, athetosis, chorea . Moderate mental retardation . Detecting uric acid levels in serum and urine,measurement of HPRT enzyme activity in blood or tissue,identifying a molecular genetic mutation in the HPRT gene asmi Posts: 3853 Re: lesch nyhan syndrome thankyou very much alice Display posts from previous: All Posts 1 Day 7 Days 2 Weeks 1 Month 3 Months 6 Months 1 Year Oldest First Newest First Back to top All times are GMT - 8 Hours Page of

93. Hprt Description of the human hprt database and software. Database. The most recent hprt database contains information on over 2,300 mutations...... http://metalab.unc.edu/dnam/des_hprt.htm

Description of the human hprt database and software Database The most recent hprt database contains information on over 2,300 mutations found in vivo and in vitro in the human hprt gene and runs under Windows. The version for evaluation on this homepage has fewer mutations and is a DOS program. The database contains information on the mutagen, dose, spontaneous and induced mutant fraction, base position, amino acid position, amino acid change, local DNA sequence, cell type, citation, and other items. In addition, information regarding the cause and effect of mutations affecting splicing is given. The database itself is in the dBASE format. Software Routines have been developed for the analysis of single base substitutions, including programs to: (i) determine if two mutational spectra are different (ii) determine if mutations show a DNA strand bias (iii) determine the frequency of transitions and transversions (iv) examine the number of mutations and mutable sites in each exon (v) display the number and kind of mutations observed at each base in the coding region (vi) perform nearest neighbor analysis (vii) display mutable amino acids in the hprt protein.

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