21. GeneReviews: Urea Cycle Disorders Overview Your browser does not support HTML frames so you must view urea cycle disorders Overview in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/ucd-overview/

Your browser does not support HTML frames so you must view Urea Cycle Disorders Overview in a slightly less readable form. Please follow this link to do so.

22. Urea Cycle - Information / Diagnosis / Treatment / Prevention eLibrary. Web Directory ? National urea cycle disorders Foundation Information about the organization as well as the disease. Family http://www.healthcyclopedia.com/genetic-disorders/urea-cycle.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... genetic disorders > urea cycle Urea Cycle Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Medical Definition Health News Web Directory: Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "urea cycle" Health News: Search millions of published articles for news on Urea Cycle Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: National Urea Cycle Disorders Foundation Information about the organization as well as the disease. Family support, membership, newborn screening project and medical information. Urea Cycle Disorders Information, medical links and a message board. The true story of a one family's struggle with this illness. Notes: Healthcyclopedia presents health information in the form of websites and articles that encompass conventional medicine and alternative treatments Under no circumstances can it recommend or endorse a specific drug or therapy or treatment.

23. Urea Cycle Management urea cycle disorders Background Rebecca S. Wappner urea cycle disorders are estimated to occur in 1 in 30,000 live births. All are inherited http://www.meadjohnson.com/metabolics/ureacycle.html

Urea Cycle Disorders: Background Rebecca S. Wappner, M.D. Director, Metabolism Clinic Team Riley Hospital for Children, Indianapolis, IN The urea cycle consists of a series of enzymatic reactions that convert ammonia, released during protein catabolism, into urea. Urea, or waste nitrogen, is then excreted in the urine. Defects in the urea cycle result in the accumulation of ammonia and its precursor amino acids, i.e. glutamine, glutamic acid, aspartic acid, and glycine. Elevated plasma levels of ammonia are highly neurotoxic in humans. Urea cycle disorders are estimated to occur in 1 in 30,000 live births. All are inherited as autosomal recessive traits with the exception of ornithine transcarbamylase (OTC) deficiency, which is inherited as an X-linked trait. Families of patients with urea cycle disorders should receive genetic counseling, as carrier detection and prenatal diagnosis are available for most disorders. Patients most often present during the neonatal period with a rapidly progressive neurologic deterioration that starts after a 1-2 day period of apparent normalcy. As ammonia levels increase, affected patients develop poor feeding, anorexia, behavioral changes, irritability, vomiting, lethargy, ataxia, seizures, coma, cerebral edema, and ultimately circulatory collapse. Less severe forms may present at any age, even in adulthood, with intermittent symptoms of hyperammonemia, behavioral problems, or neurologic dysfunction.

24. Urea Cycle Disorders - Quest Diagnostics Patient Health Library Links families, friends and professionals who are dedicated to the identification, treatment and cure of urea cycle disorders, a genetic disorder causing an http://www.questdiagnostics.com/kbase/shc/shc29ure.htm

document.write(''); var hwPrint=1; var hwDocHWID="shc29ure"; var hwDocTitle="Urea Cycle Disorders"; var hwRank="1"; var hwSectionHWID="shc29ure"; var hwSectionTitle=""; var hwSource="us6.0"; var hwProdCfgSerNo="wsh_html_001_s"; var hwDocType="SHC"; Self Help Clearinghouse Urea Cycle Disorders National Urea Cycle Disorders Foundation National network. Founded 1989. Links families, friends and professionals who are dedicated to the identification, treatment and cure of urea cycle disorders, a genetic disorder causing an enzyme deficiency in the urea cycle. Networks families together for support, educates professionals and public, and supports research. Phone support, literature, newsletter. Dues $35. WRITE: National Urea Cycle Disorders Foundation 4841 Hill St. La Canada, CA 91011 CALL: 1-800-386-8233 FAX: 818-248-9770 E-MAIL: info@nucdf.org WEBSITE: http://www.nucdf.org VERIFIED: 2/12/2003 Urea Cycle Disorder Discussion Board Online. Opportunity for parents caring for a child with a urea cycle disorder to discuss concerns and ideas. Goal is to increase awareness of urea cycle disorders in order to improve diagnosis. WEBSITE: http://www.2endure.com

25. Newborn Screening Program - Urea Cycle Disorders urea cycle disorders. Definition. Urea cycle. Newborn screening in Illinois includes testing for the following urea cycle disorders http://www.idph.state.il.us/HealthWellness/fs/urea.htm

Urea Cycle Disorders Definition Urea cycle disorders are a group of inherited conditions of amino acid metabolism, each caused by a specific defect in the biosynthesis of one of the normally expressed enzymes of the urea cycle. Newborn screening in Illinois includes testing for the following urea cycle disorders: Argininemia Citrullinemia Argininosuccinic aciduria (ASA) Note: Other urea cycle disorders, including ornithine transcarbamylase (OTC) deficiency, are not detected by newborn screening. Clinical Symptoms Symptoms of citrullinemia and ASA present in the newborn period. These infants appear normal at birth with onset of clinical symptoms beginning at 1 to 3 days of age. Clinical features include infantile hypotonia, hypothermia, poor feeding, persistent vomiting, neonatal seizures and lethargy, leading to coma, hepatomegaly and hyperventilation. Argininemia may present with paraplegia, tetraplegia and ataxia. Newborn Screening and Definitive Diagnosis In Illinois, newborn screening for urea cycle defects is performed using tandem mass spectrometry. False positive and false negative results are possible with this screening. Infants with a presumptive positive screening test require prompt follow-up and, when notified of these results, the clinician should immediately check on the clinical status of the baby and refer the infant to a metabolic disease specialist. Treatment Early diagnosis and treatment is essential for an improved prognosis. If left untreated, infants with these conditions will suffer progressive neurological deficit and death. Treatment for ASA and citrullinemia is dietary, and includes a special medical formula with arginine supplements and high caloric intake as well as medications to control problems of hyperammonemia. Liver transplantation is an effective treatment. Urea cycle disorders may result in severe hyperammonemia, and infants with this condition require prompt treatment, which may include hemodialysis.

26. MedlinePlus Medical Encyclopedia: Hereditary Urea Cycle Abnormality Most patients with urea cycle disorders require hospitalization at some point in their illness. During such times, they may be treated http://www.nlm.nih.gov/medlineplus/ency/article/000372.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Hereditary urea cycle abnormality Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Male urinary system Urea cycle Alternative names Return to top Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality Definition Return to top The urea cycle is a metabolic process in which waste (nitrogen) from the breakdown of dietary proteins is incorporated by the liver into a form (called urea) that can be excreted from the body in the urine. Several hereditary conditions can cause problems with this waste-removal process. These are genetic diseases caused by the lack of a gene that makes critical enzymes needed for the urea cycle. They include: ornithine transcarbamylase deficiency (OTC) citrullinemia arginase deficiency argininosuccinic aciduria carbamyl phosphate synthetase (CPS) deficiency N-acetyl glutamate synthetase deficiency (NAGS) Causes, incidence, and risk factors

27. Urea Cycle Disorder Back Home Next. Urea Cycle Disorder. National cure. urea cycle disorders. Copyright of Ability All Rights Reserved1990 Webmaster . http://www.ability.org.uk/Urea_Cycle_Disorder.html

"see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Urea Cycle Disorder National Urea Cycle Disorder Foundation - linking families, friends and professionals who are dedicated to the identification, treatment and cure. Urea Cycle Disorders Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

28. Disease Directory : Genetic Disorders : Urea Cycle Urea Cycle, National urea cycle disorders Foundation http//www.nucdf.org/ Information about the organization as well as the disease. urea cycle disorders. http://www.diseasedirectory.net/Genetic_Disorders/Urea_Cycle/default.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Urea Cycle Encyclopedia4U - Urea cycle - Encyclopedia Article - Urea cycle. The Urea Cycle is a cycle of biochemical reactions occurring in many animal organisms that produces urea from ammonia. - Urea Cycle, National Urea Cycle Disorders Foundation - http://www.nucdf.org/ Information about the organization as well as the disease. Health Information Resource Database: National Urea Cycle ... - National Urea Cycle Disorders Foundation. Abstract. This non-profit organization is dedicated to the identification, treatment and cure of urea cycle disorders. Health Library - Urea Cycle Disorders - groups. Urea Cycle Disorders. Self Help Clearinghouse. National Urea Cycle Disorders Foundation. National network. Founded MEDLINEplus Medical Encyclopedia: Hereditary urea cycle ... - Hereditary urea cycle abnormality. Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality Definition Return to top. Metabolic Pathways of Biochemistry - Kreb-Henseleit Urea Cycle 3-D Newborn Screening Program - Urea Cycle Disorders - Urea Cycle Disorders. Definition. Urea cycle. Newborn screening in Illinois includes testing for the following urea cycle disorders:

29. Urea Cycle Disorders Consortium Contact Information. CNMC Mark Batshaw, MD Children s National Medical Center Office 202884-4077 Fax 202-884-5988 Email mbatshaw@cnmc.org, Mt. http://www.rarediseasesnetwork.org/ucdc/

Contact Information CNMC Mark Batshaw, M.D. Children's National Medical Center Office: 202-884-4077 Fax: 202-884-5988 Email: mbatshaw@cnmc.org Mt. Sinai George Diaz, M.D. Mount Sinai School of Medicine Office: 212-659-6790 Fax: 212-849-2508 Email: george.diaz@mssm.edu Vanderbilt Marshall Summar, M.D. Vanderbilt University Medical Center Office: 615-322-7601 Fax: 615-343-9951 Email: marshall.summar@Vanderbilt.Edu Baylor Brendan Lee, M.D., Ph.D. Baylor College of Medicine Office: 713-798-8835/5443 Fax: 713-798-5168 Email: blee@bcm.tmc.edu CNMC Mendel Tuchman, M.D. Children's National Medical Center Office: 202-884-2549 Email: mtuchman@cnmc.org UCLA Stephen Cederbaum, M.D. UCLA Office: 310-825-0402 Fax: 310-206-5431 Email: scederbaum@mednet.ucla.edu Yale Margretta Seashore, M.D. Yale University School of Medicine Office: 203-785-4938 Fax: 203-785-3404 Email: margretta.seashore@yale.edu

30. Health Library - groups. urea cycle disorders. Self Help Clearinghouse. National urea cycle disorders Foundation. National network. Founded http://12.31.13.113/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29ure

31. ANOMALIES DU CYCLE DE L'UREE - UREA CYCLE DISORDERS Translate this page Brusilow SW, Maestri NE. urea cycle disorders diagnosis, pathophysiology, and therapy. Adv Pediatr. 43 127-170. The urea cycle disorders Conference Group. http://www.pediatrie.be/JPP.htm

M.C. NASSOGNE , G. TOUATI, B. HERON, D. RABIER, J.M. SAUDUBRAY. Introduction N Tableau chronique. Tableau neurologique Tableau psychiatrique : Tableau aigu Discussion Bibliographie LEONARD JV. Urea cycle defects. In: Fernandes J, Saudubray JM, van den Berghe G (eds) Inborn metabolic diseases. Springer. Berlin. 2000 pp . In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp Brusilow SW, Maestri NE. Urea cycle disorders : diagnosis, pathophysiology, and therapy. Adv Pediatr. 1996. The Urea Cycle Disorders Conference Group. Consensus statement from a conference for the management of patients with urea cycle disorders. J Pediatr. 2001. Batshaw ML, Roan Y, Jung AL, Rosenberg LA, Brusilow SW. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency. N Engl J Med. 1980. 14 : 1316- Dimagno EP, Lowe JE, Snodgrass PJ, Jones JD. Ornithine transcarbamylase deficiency : a cause of bizarre behavior in a man. N Engl J Med. 1986. 315 : 744-747. Drogari E, Leonard JV. Late-onset ornithine transcarbamylase deficiency in males. Arch Dis Child 1988. 63 : 1363-1367.

32. Information Center - Urea Cycle Disorders (Condition Description) ForMyDiet is designed to make living with and managing a urea cycle disorders diet a whole lot easier. urea cycle disorders, Go Back. http://www.formydiet.com/Information/Doc.aspx?a=12

33. Urea Cycle Disorders ForMyDiet is designed to make living with and managing a urea cycle disorders diet a whole lot easier. urea cycle disorders Home Page http://www.formydiet.com/Information/disorder.aspx?a=6

34. Urea Cycle Disorders urea cycle disorders. Self Help Clearinghouse. National urea cycle disorders Foundation. National network. Founded 1989 http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=shc29ure

35. Nutritional And Metabolic Diseases urea cycle disorders (not on MeSH). The US Nat l urea cycle disorders Foundation. Information on urea cycle disorders. On Hyperammonemia KS Roth eMedicine. http://www.mic.ki.se/Diseases/C18.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Nutritional and Metabolic Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Acid-Base Imbalance Acidosis Alkalosis Alkaptonuria ... Wolman Disease Nutritional and Metabolic Diseases FDA Center for - (US) International Union of Nutritional Sciences - (AU) The Nutrition Navigator (rating guide) at Tufts University The USDA Nutrient Database for Standard Reference, rel 13 - (US) NATS - Nutritional Analysis Tool and System About some Diagnostic Tests Used in Evaluation of Malabsorption www.FoodSafety.gov Food Safety including a list of Organisms of concern - N Carolina Coop. Ext. Serv. (US) About Food Irradiation - BFE (DE) Facts about Food Irradiation - IAEA (AT) The British Nutrition Foundation Int'l Food Information Council , including a page on Food Additives , and

36. Healthfinder® — National Urea Cycle Disorders Foundation - NUCDF This nonprofit organization is dedicated to the identification, treatment and cure of urea cycle disorders. National urea cycle disorders Foundation - NUCDF. http://www.healthfinder.gov/orgs/HR3331.htm

health library just for you health care organizations search: help National Urea Cycle Disorders Foundation - NUCDF organization URL(s) www.nucdf.org/ other contact information 4841 Hill Street La Canada, CA 91011 800-38NUCDF (Voice - Toll-free) description This non-profit organization is dedicated to the identification, treatment and cure of urea cycle disorders. The National Urea Cycle Disorders Foundation (NUCDF) provides information, education and support to families and friends of persons affected by urea cycle disorders and the professionals who treat them. The Foundation's membership includes families from within the United States and its territories as well as international. print resources A quarterly newsletter provides up-to-date medical research, nutritional information, helpful hints for day-to-day survival and personal family stories. related topics Birth Defect Metabolic Diseases Patient Advocacy Rare Diseases review date Wed Mar 29, 2000 accessibility freedom of information act privacy contact us ... U.S. Department of Health and Human Services

37. To Save Money On Urea Cycle Therapy Click Here For Urea Cycle Therapy Discount S Urea Cycle Management urea cycle disorders Background. Rebecca S. Wappner, MD Director, Metabolism Clinic Team. urea cycle disorders Dietary Management http://www.institutedc.org/23/Urea-Cycle-Therapy.html

Urea Cycle Therapy Prescription Drug Discount Sources Is Your Urea Cycle Therapy Medication Too Expensive for Your Budget? You may qualify to get Urea Cycle Therapy and your other prescription drugs for free. Pharmaceutical manufacturers have patient assistance programs that give away millions of dollars worth of free medication annually. Booklet explains how and where to go for help. A to z list of programs and cross reference of prescription drugs. Booklet cost $6 Library: Transplanted to Resolve a Urea cycle Enzyme-deficiency - TRUEKids.ORG ... scroll down to urea cycle defects section ... Alternative pathway therapy for urea cycle disorders: twenty years later ... What is a Urea Cycle Disorder? What is a Urea Cycle Disorder? What are the symptoms? What kinds of disorders are there? What are the treatment options? What is a Urea Cycle Disorder? ... A urea cycle disorder is a genetic disorder caused by a deficiency of one of the enzymes in ... are often accompanied by amino acid therapy , multiple vitamins and calcium supplements ... WARNING WARNING DRUG DRUG ... A genetic defect or deficiency in one of the enzymes of the

38. Adjunctive Therapy For Urea Cycle Disorders Licensed Return to PJ Online Home Page The Pharmaceutical Journal Vol 264 No 7096 p718 May 13, 2000 Clinical. Adjunctive therapy for urea cycle disorders licensed. http://www.pjonline.com/Editorial/20000513/clinical/adjunctivetherapy.html

The Pharmaceutical Journal Vol 264 No 7096 p718 May 13, 2000 Clinical Adjunctive therapy for urea cycle disorders licensed Sodium phenylbutyrate (Ammonaps) has been licensed as an "orphan drug" for adjunctive therapy in the chronic management of urea cycle disorders. These disorders are deficiencies of carbamylphosphate synthetase, ornithine transcarbamylase or argininosuccinate synthetase. Sodium phenylbutyrate is indicated for all patients with neonatal onset presentation (complete enzyme deficiencies presenting within the first 28 days of life), and for patients with late onset disease (partial enzyme deficiencies, presenting after the first month of life) who have a history of hyperammanaemic encephalopathy. Orphan Europe, manufacturer of Ammonaps, says that, in the UK, around 18 babies are born with this condition each year. The company says that the urea cycle is a self-regenerating pathway or cycle by which all of the body's waste nitrogen is converted into urea for renal excretion. An enzyme defect in the cycle leads to a greatly reduced capacity of the cycle to metabolise waste nitrogen. This may lead to seizures, coma and death. Sodium phenylbutyrate, previously available on a named-patient basis, is a prodrug which is rapidly metabolised to phenyl-acetate. Phenylacetate binds to glutamine to form phenylacetylglutamine, which is then excreted by the kidney, reducing elevated plasma ammonia and glutamine levels.

39. Urea Cycle Disorder Discussion Board a UCD http//www.genetests.org Look up Dr. Marshall L. Summar and Dr. Mendel Tuchman s article called, urea cycle disorders REVIEW posted on 29 April 2003. http://disc.server.com/discussion.cgi?disc=157587;article=1175;title=Urea Cycle

40. Urea Cycle Disorder Discussion Board to my childrens problems for over 22 years and I have a theory that I would like to put by some of you who are experienced with urea cycle disorders before I http://disc.server.com/discussion.cgi?disc=157587;article=1172;title=Urea Cycle

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