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Urea Cycle Disorders: more detail

Urea cycle disorders: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Julianne Remington, 2005
Congenital disorders of the urea cycle and ammonia detoxication (Monographs in paediatrics) by Jean Pierre Colombo, 1971
The Pediatrician's Guide to Ornithine Transcarbamylase Deficiency . . . and other Urea Cycle Disorders (The National Organization for Rare Disorders, NORD Guides for Physicians #2) by The National Organization for Rare Disorders, 1999
Inherited disorders of the urea cycle by George K Summer, 1973
CONGENIAL DISORDERS OF THE UREA CYCLE AND AMMONIA DETOXICATION( Monographs in Pediatrics) by J.P. Colombo, 1971
Congenital Disorders of the Urea Cycle and Ammonia Detoxication Volume I
Congenital Disorders of the Urea Cycle and Ammonia Detoxication Volume I by Jean-Pierre Colombo, 1971-01-01
Urea Cycle Diseases (Advances in Experimental Medicine & Biology)

lists with details

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/
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

Extractions: 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.
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

Extractions: 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.
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

Extractions: 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.
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

Extractions: Note: Other urea cycle disorders, including ornithine transcarbamylase (OTC) deficiency, are not detected by newborn screening. 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. 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. 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.
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

Extractions: @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: 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: Causes, incidence, and risk factors
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

Extractions: "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
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

Extractions: 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:
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/
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
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

Extractions: 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.
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
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
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
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

Extractions: 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
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

Extractions: La Canada, CA 91011 800-38NUCDF (Voice - Toll-free) 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. A quarterly newsletter provides up-to-date medical research, nutritional information, helpful hints for day-to-day survival and personal family stories. Birth Defect Metabolic Diseases Patient Advocacy Rare Diseases Wed Mar 29, 2000 accessibility freedom of information act privacy contact us ...
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

Extractions: 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 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 ...
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

Extractions: 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.
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
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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