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Lesch-nyhan Syndrome: more detail

Lesch Nyhan Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-10-21

The Official Parent's Sourcebook on Lesch-nyhan Syndrome: Directory for the Internet Age by Icon Health Publications, 2005-01-31

Lesch?Nyhan Syndrome: Genetic disorder, Enzyme, Hypoxanthine- guanine phosphoribosyltransferase, Mutation, Gene, Uric acid, Hyperuricemia, Hyperuricosuria, ... Self- injury, Huntington's disease

Gale Encyclopedia of Medicine: Lesch-Nyhan syndrome by Holly Ann Ishmael M.S., 2002-01-01

Lesch-Nyhan Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18

Lesch-Nyhan Syndrome Medical Guide by Qontro Medical Guides, 2008-07-09

Lesch-Nyhan syndrome: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Holly, MS, CGC Ishmael, 2005

Lesch-Nyhan syndrome: An entry from Thomson Gale's Gale Encyclopedia of Neurological Disorders by Holly, MS, CGC Ishmael, Rosalyn, MD Carson-DeWitt, 2005

Lesch-Nyhan Syndrome: An entry from Gale's Gale Encyclopedia of Medicine, 3rd ed. by Holly, M.S. Ishmael, Rebecca, PhD Frey, 2006

Assessment of substance-p-like immunoreactivity in the Substantia Nigra of 6-hydroxydopamine-lesioned rats: Implications for self-injurious behavior in an animal model of the Lesch-Nyhan syndrome by Christina Ohana Pinto Chiareli, 1991

lists with details

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

Extractions: 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.
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

Extractions: 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?
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
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
Browse forwards .. Menu. leschnyhan syndrome. Synonyms HGPRT-deficiency
http://oxmedinfo.jr2.ox.ac.uk/Pathway/Disease/2059.htm
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
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

Extractions: 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.
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

Extractions: 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.
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
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

Extractions: 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.
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

Extractions: 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)
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
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

Extractions: 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 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
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

Extractions: (advertisement) Synonyms, Key Words, and Related Terms: HPRT deficiency, Kelley-Seegmiller syndrome, Lesch-Nyhan disease 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.
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
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

Extractions: 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.
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/
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

Extractions: Subscribe now >> 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.
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

Extractions: Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: 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.
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

Extractions: Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Home About NINDS Disorders-you are in this section ... Find People 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 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 NINDS Lesch-Nyhan Syndrome Information Page

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