21. Urea Cycle Disorders Feature article describes urea cycle disorders, their diagnosis, and treatment. http://rarediseases.about.com/cs/ureacycledisord/a/041203.htm

var zLb=12; var zIoa1 = new Array('Suggested Reading','Internet links on urea cycle disorders','http://rarediseases.about.com/cs/ureacycledisord/index.htm'); var zIoa2 = new Array('Elsewhere on the Web','National Urea Cycle Disorders Foundation','http://www.nucdf.org','Clinical Trial-Treatment of Urea Cycle','http://www.clinicaltrials.gov/ct/gui/show/NCT00004307?order=6','The Biotech Death of Jesse Gelsinger','http://www.humangenetherapy.com/french/history/biotech.pdf'); zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Information by Disease Type Metabolic Disorders Urea Cycle Disorders Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Stay up to date! Compare Prices Email to a friend ... Print this page Suggested Reading Internet links on urea cycle disorders Elsewhere on the Web National Urea Cycle Disorders Foundation Clinical Trial-Treatment of Urea Cycle The Biotech Death of Jesse Gelsinger Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Charcot-Marie-Tooth Disease Peyronie's Disease Twin-to-Twin Transfusion Synd Autoimmune Kidney Disease ... Cri-du-Chat Syndrome Related Topics Multiple Sclerosis Parenting Special Needs Sleep Disorders adunitCM(150,100,'x55')

22. Urea Cycle Disorders Links to articles, information, and resources for urea cycle disorders. http://rarediseases.about.com/cs/ureacycledisord/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Urea Cycle Disorders Guide picks Group of disorders affecting the urea cycle, a series of biochemical processes in the body. Urea Cycle Disorders Article describes the urea cycle disorders, their diagnosis, and treatment. From the About.com Guide to Rare/Orphan Diseases. National Urea Cycle Disorders Foundation Site offers information, resources, and support for families affected by urea cycle disorders. Contact a Family: Urea Cycle Disorders Site offers information and support, and contacts in the U.K. MEDLINEplus: Hereditary Urea Cycle Abnormality U.S. National Library of Medicine offers information and resources. Topic Index Email to a Friend Our Story Be a Guide ... New York Times Company Around About Hurricane Katrina Photo Gallery: Europe Photo Gallery: Las Vegas Strip World's Best Spas ... Nudity and the Spa What's Hot Charcot-Marie-Tooth Disease Peyronie's Disease Twin-to-Twin Transfusion Synd Autoimmune Kidney Disease ... Cri-du-Chat Syndrome Headlines Cystic Fibrosis Foundation helps Hurricane Katrina victims Robert J. Beall, Ph.D, President and CEO of the Cystic...

23. UREA CYCLE DISORDERS: Contact A Family - For Families With Disabled Children: In Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/u14.html

printer friendly UREA CYCLE DISORDERS home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no The urea cycle is the metabolic pathway by which waste nitrogen is converted to urea, which is then excreted in the urine. The cycle has several steps, each catalysed by a different enzyme. Urea cycle defects result when there is a deficiency of one of these enzymes: N-acetyl glutamate synthase (NAGS) deficiency Carbamyl phosphate synthase (CPS) deficiency Ornithine transcarbamylase (OTC) deficiency Citrullinaemia (Argininosuccinate synthase deficiency) Argininosuccinic aciduria (Argininosuccinate lyase deficiency) Hyperargininaemia (Arginase deficiency) The most common of the urea cycle disorders is OTC deficiency. Disturbance of the urea cycle results in a rise in ammonia concentrations in the blood and brain with associated irritability, vomiting, drowsiness and coma. The disorders commonly present in the first month of life but symptoms may start at almost any age. Arginase deficiency mostly presents with a neurological disorder (spastic diplegia) and developmental delay. Management aims to control ammonia concentrations and prevent episodes of decompensation, as these are potentially serious. General measures include a protein restricted diet, arginine supplementation (as this becomes an essential amino acid in these disorders with the exception of hyperargininaemia), and the use of alternate pathway medicines which help rid the body of excess nitrogen bypassing the urea cycle. During periods of infection, protein intake is stopped, and glucose is given either by mouth or intravenously.

24. ORPHAN EUROPE - Urea Cycle Disorders urea cycle disorders (UCD) belong to the group of disorders known as Patients with urea cycle disorders are required to control their protein intake. http://www.orphan-europe.com/harnstoffzyklus_gb.html

your country: D GB F E I PL S SF DK N print page email page search Homepage Welcome The Orphan drug legislations Background Who are we? ... Job opportunities Orphan Europe (UK) Ltd. Patient organisations Contact What are Urea Cycle Disorders ? Urea Cycle Disorders (UCD) belong to the group of disorders known as inborn errors of metabolism. Metabolism is a collective name comprising all biochemical actions taking place in the human body. There are many metabolic disorders all having different features depending on which metabolic site is affected. The urea cycle is the metabolic pathway by which toxic ammonia is converted to non toxic urea which can be excreted in the urine. Ammonia is derived from the breakdown of protein. There are 6 possible disorders of the urea cycle each representing a defect of one of the enzymes involved: Carbamyl-phosphate synthetase deficiency Ornithine transcarbamylase deficiency Argininosuccinate synthetase deficiency (Citrullinaemia) Argininosuccinate lyase deficiency (Argininosuccinic aciduria) Arginase deficiency N-Acetylglutamate synthetase deficiency All of these deficiencies cause abnormally high accumulation of ammonia in blood (hyperammonaemia) and tissue. Ammonia is toxic to every cell and particularly to brain tissue.

25. Urea Cycle Disorders National network. Founded 1989. Links families, friends and professionals who are dedicated to the identification, http://my.webmd.com/hw/health_guide_atoz/shc29ure.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... ASA Kids 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: 818-952-2184 E-MAIL: info@nucdf.org WEBSITE: http://www.nucdf.org

26. Citrullinemia The urea cycle disorders are a group of rare disorders affecting the urea cycle, National urea cycle disorders Foundation 4841 Hill Street http://my.webmd.com/hw/raising_a_family/nord310.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Citrullinemia Important It is possible that the main title of the report Citrullinemia 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 Argininosuccinic Acid Synthetase Deficiency ASS Deficiency Inborn Error of Urea Synthesis, Citrullinemia Type Urea Cycle Disorder, Citrullinemia Type Citrullinuria Disorder Subdivisions None General Discussion Citrullinemia is a rare inherited disorder caused by deficiency or lack of the enzyme argininosuccinate synthetase (ASS). Argininosuccinate synthetase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of this enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affected infants may experience vomiting, refusal to eat, progressive lethargy, and coma. Citrullinemia is inherited as an autosomal recessive trait. The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine. Nitrogen is a waste product of protein metabolism. Failure to break down nitrogen results in the abnormal accumulation of nitrogen, in the form of ammonia, in the blood.

27. Urea Cycle Management urea cycle disorders are estimated to occur in 1 in 30000 live births. Families of patients with urea cycle disorders should receive genetic counseling, 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.

28. Newborn Screening Program - Urea Cycle Disorders urea cycle disorders are a group of inherited conditions of amino acid metabolism Note Other urea cycle disorders, including ornithine transcarbamylase 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.

29. MedlinePlus Medical Encyclopedia: Hereditary Urea Cycle Abnormality Most patients with urea cycle disorders require hospitalization at some point in their If there is a family history of urea cycle disorder, seek genetic http://www.nlm.nih.gov/medlineplus/ency/article/000372.htm

@import url(/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

30. MedlinePlus: Metabolic Disorders (National urea cycle disorders Foundation); What Is Hyperoxaluria and Oxalosis? (Oxalosis and Hyperoxaluria Foundation) http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other health topics: A B C D ... List of All Topics Metabolic Disorders Contents of this page: News From the NIH Overviews Diagnosis/Symptoms ... Seniors Search MEDLINE/PubMed for recent research articles on Metabolic Disorders You may also be interested in these MedlinePlus related pages: Celiac Disease Gaucher's Disease Genetic Brain Disorders Hemochromatosis ... Metabolic Problems Latest News Cancer Drugs May Treat Aging Syndrome in Children (08/30/2005, Reuters Health) Cellular Energy Rate Down with Diabetes (08/25/2005, United Press International) From the National Institutes of Health Lipid Storage Diseases (National Institute of Neurological Disorders and Stroke) Overviews Hereditary Metabolic Disorders Diagnosis/Symptoms Muscle Biopsy for Diagnosis of Metabolic Diseases (Cleveland Clinic Foundation) Skin Biopsy for Diagnosis of Metabolic Diseases (Cleveland Clinic Foundation) Prevention/Screening Layperson's Guide to Tandem Mass Spectrometry and Newborn Screening (Save Babies Through Screening Foundation) Newborn Screening Tests (March of Dimes Birth Defects Foundation) Also available in: Spanish Disease Management Management of MPS (Mucopolysaccharidosis) and ML (Mucolipidoses) (National MPS Society) - Links to PDF Specific Conditions Amyloidosis (Mayo Foundation for Medical Education and Research) Barth Syndrome (National Institute of Neurological Disorders and Stroke) Carnitine Palitoyl Transferase Deficiency Type II (CPT-II) (Save Babies Through Screening Foundation)

31. Argininosuccinic Aciduria (ASA) Argininosuccinic Aciduria (ASA) is a disorder of the urea cycle. ASA is one of the urea cycle disorders and is caused by deficiency of an enzyme called http://www.savebabies.org/diseasedescriptions/asa.php

Search Our Site! Argininosuccinic Aciduria (ASA) A Urea Cycle Disorder Argininosuccinic Aciduria is also known as Argininosuccinic Acidemia, Argininosuccinase Deficiency, and Argininocuccinate Lyase Deficiency (ALD). Save Babies Through Screening Foundation is comprised of volunteers. Some have children who were helped by newborn screening, and some have children who have died, or suffered brain damage. For many of the Foundation's volunteers, joy comes from knowing that your child was saved. Many hours of hard work have been done to help children, maybe even yours. Please let us hear from you. What is it? Argininosuccinic Aciduria (ASA) is a disorder of the urea cycle. Patients with urea cycle disorders cannot convert nitrogen in the form of ammonia into urea. Build up of ammonia is toxic and can cause brain damage. Nitrogen in ammonia comes from protein in the food we eat or the breakdown of protein from the muscle when we are sick. Without the urea cycle, ammonia will build up to dangerous levels when we take in too much protein or when we are sick. ASA is one of the urea cycle disorders and is caused by deficiency of an enzyme called argininosuccinic acid lyase in the body. This prevents the conversion of argininosuccinic acid (ASA) into arginine. The build up in ASA if too high ultimately causes a build up in ammonia. At the same time, arginine may be deficient. Inheritance and Frequency The gene defect for ASA is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.

32. UpToDate Urea Cycle Disorders Deficiency of an enzyme in the pathway causes a urea cycle disorder (UCD). The urea cycle disorders are. Carbamyl phosphate synthetase I (CPSI) deficiency http://patients.uptodate.com/topic.asp?file=dis_chld/4791&title=Menstrual cycle

33. Urea Cycle Disorders National urea cycle disorders Foundation 4841 Hill Street La Canada, UCD (urea cycle disorders) Support Network PO Box 6924 Chicago IL 606806924 http://www.kumc.edu/gec/support/ureacycl.html

Urea cycle disorders National Urea Cycle Disorders Foundation 4841 Hill Street La Canada, CA 91011 Phone: 1-800-38NUCDF [800-386-8233] or (818) 790-2460 Contact: Cindy Le Mons and Mindy Rosen E-mail: Cindy@nucdf.org and Mindy@nucdf.org Fax: (908) 851-2733 Web page: http://www.nucdf.org/ Includes numerous additional resources UCD (Urea Cycle Disorders) Support Network P.O. Box 6924 Chicago IL 60680-6924 Phone: (800) 309-8237 or (312) 791-9323 Also See: National organizations with information on genetic conditions or birth defects - variety of resources National Organization for Rare Disorders Organic Acidemia Association 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

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

Help Advanced Search News Library ... Organizations 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 Sep 15, 2004 About Us Accessibility Freedom of Information Act Privacy ... Office of Disease Prevention and Health Promotion,

35. 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.genetests.org/query?dz=ucd-overview

36. Urea Cycle Disorders - St. Joseph Mercy, Ann Arbor Michigan urea cycle disorders St. Joseph Mercy Health System Hospitals serving Ann Arbor, SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/16007.cfm

@import url(default.css); Online Health Information Health Information - Support Groups Back to Health Library Print This Page Email to a Friend Self Help Clearinghouse Urea Cycle Disorders National Urea Cycle Disorders Foundation Urea Cycle Disorder Discussion Board T.R.U.E. (Transplanted to Resolve Urea cycle Enzyme def.) Kids ASA Kids This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. 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.

37. Disorders urea cycle disorders are genetic disorders caused by a deficiency in one of the All but one of the urea cycle disorders (OTCD) are transmitted as http://www.pku-allieddisorders.org/allieddisorders.htm

Homocystinuria MSUD Organic Acidemias Phenylketonuria Tyrosinemia Urea Cycle Disorders All of the disorders listed above have a common thread. Each disorder is a metabolic disorder requiring a low protein diet along with strict medical supervision. Together we can make a difference as we reach out and across to one another For Links and support group information, Please click here For low protein recipes see this site: www.lowprotein.com Mansfield, MA 02048 Home Research Resources Disorders ... Disorders Homocystinuria Homocystinuria is a metabolic disorder caused by a defective enzyme (cystathionine synthetase) needed to digest the amino acid in protein called methionine. Once diagnosed, the initial treatment would be changing the baby formula to a special medical formula, which does not contain methionine. Along with the medical formula the child will maintain a low protein/low methionine diet for life. Some of the more dominant systems of HCU include mental retardation, ectopia lentis (dislocation of the lenses of the eye), osteoporosis, delays in reaching developmental milestones, the formation of blood clots that may lead to life-threatening complications.

38. Urea Cycle Disorders Links This urea cycle disorders links page contains links to support groups, education sites, and metabolic programs. http://www.formydiet.com/Information/LinkList.aspx?c=6

39. Urea Cycle Disorders, Eastern Carolina urea cycle disorders University Health Systems of Eastern Carolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties in http://www.uhseast.com/117981.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. Urea Cycle Disorders This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. 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.

40. Adjunctive Therapy For Urea Cycle Disorders Licensed Adjunctive therapy for urea cycle disorders licensed. Sodium phenylbutyrate (Ammonaps) has been licensed as an orphan drug for adjunctive therapy in the 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.

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