1. National Urea Cycle Disorders Foundation Information about the organization as well as the disease. Family support, membership, newborn screening http://www.nucdf.org/

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2. "God Helps Those Who Help Themselves, By Angela And George Kidd" Information, medical links and a message board. The true story of a one family's struggle with this illness. http://www.2endure.com

Thanks for stopping by! Our goal is to increase awareness of Urea Cycle Disorders in order to improve diagnosis. There has already been an improvement in diagnosis over the past 2 years! How can you help? SPREAD THE WORD! UCD's aren't as rare as they were once thought to be, and if not treated they will cause coma and death. For more information, browse the links on this site. If you would like your site listed, please go to the end of the page and email. Urea Cycle Disorder Discussion Board View our Guestbook Links and Info What is a Urea Cycle Disorder? Other Urea Cycle Disorder Websites Links to info on seizures, including rare causes. Places to search for information ... Et cetera, cool links that don't fit anywhere else. A nonfiction novel by Angela and George Kidd For two and a half years, he was plagued by a mysterious illness . At first he was thought to have epilepsy. His hospitalizations increased and his level of awareness decreased. As his demise and imminent death grew near, it became apparent to his father and mother that something had been overlooked. Could it be discovered before an innocent child lost his life The sale of this book is not solely intended to make a profit (though honestly, making a profit would be grand), but also to raise awareness about the disorder. We have actually given away as many books as we have sold. If your financial circumstances prevent you from purchasing a copy, send $1.50 for postage and we will send you a free 219 page hardcover copy of our book (This applies to those in the continental US, I would have to check on postage outside the USA). Just click on the "ORDER" button below to get the address.

3. Urea Cycle Disorders / Family Village The National urea cycle disorders Foundation is a nonprofit organization dedicated to the identification, treatment and cure of urea cycle disorders. Our organization was formed http://www.familyvillage.wisc.edu/lib_urea.htm

Urea Cycle Disorders Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Urea Cycle Disorder" Who to Contact National Urea Cycle Disorders Foundation 4841 Hill St. La Canada, CA 91011 1-800-38-NUCDF E-mail: info@nucdf.org Web: http://www.nucdf.org/ The National Urea Cycle Disorders Foundation is a non-profit organization dedicated to the identification, treatment and cure of urea cycle disorders. Our organization was formed in 1988 by a handful of parents whose children were affected in order to provide a primary resource for information and education, and to support and stimulate research on urea cycle disorders. The Foundation is operated and supported by the volunteer efforts of families with children suffering from UCDs. Our organization is a supportive network of families, friends, and medical professionals. The goals of our organization are to provide guidance and information to families and others affected by urea cycle disorders; educate medical personnel on the diagnosis and treatment of urea cycle disorders; network families together for support; increase public awareness on the existence of these disorders to facilitate early diagnosis and lower mortality rates; educate legislators on the needs of families affected by this disorder; to support and stimulate research activities, and above all, to find a cure. Where to Go to Chat with Others NUCDF Discussion Board Learn More About It What is a Urea Cycle Disorder?

4. What Is A Urea Cycle Disorder? urea cycle disorders are included in the category of inborn errors of metabolism. There is no cure. What are the 5 urea cycle disorders? http://www.nucdf.org/whatis.htm

Understanding the Basics 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 the urea cycle which is responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to urea. Normally, the urea is transferred into the urine and removed from the body. In urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance, and is not removed from the body. Ammonia then reaches the brain through the blood, where it causes irreversible brain damage and/or death. What are the symptoms? THE NEONATAL PERIOD: Children with severe urea cycle disorders typically show symptoms after the first 24 hours of life. The baby may be irritable at first, followed by vomiting and increasing lethargy. Soon after, seizures, hypotonia (poor muscle tone), respiratory distress, and coma may occur. If untreated, the child will die. These symptoms are caused by rising ammonia levels in the blood. Acute neonatal symptoms are most frequently seen in boys with OTC Deficiency. ADULTHOOD: Recently, the number of adult individuals being diagnosed with urea cycle disorders has increased at an alarming rate. It was previously believed that children NEVER survived these disorders, but recent evidence has indicated that, in fact, some have survived undiagnosed into adulthood. These individuals exhibit stroke-like symptoms, episodes of lethargy, and delirium. These adults are likely to be referred to neurologists or psychiatrists because of their psychiatric symptoms. However, without proper diagnosis and treatment, these individuals are at risk for permanent brain damage, coma, and death. Adult-onset symptoms have been observed following viral illnesses, childbirth, and use of valproic acid (an anti-epileptic drug). Adult onset urea cycle disorders are more common in women with OTC Deficiency.

5. Urea Cycle Disorders Information about urea cycle disordersa frequently overlooked, fatal illness affecting children. urea cycle disorders (UCD) are estimated to affect 1 in every 25 000 births For more information on urea cycle disorders, go to our links. http://www.2endure.com/mysterious illness.html

Other Urea Cycle Disorder Websites Links to info on seizures, including rare causes. Places to search for information Autism Society of America ... Et cetera, cool links that don't fit anywhere else. E v e r y C h i l d D e s e r v e s A C h a n c e What? A Urea Cycle disorder is an inherited genetic defect. Normally, the liver supplies six enzymes to metabolize the protein that we eat. In these disorders, the liver fails to produce all of the enzymes necessary to metabolize protein. Instead, one of the enzymes is either partially produced, or not produced at all. The protein then builds up in the bloodstream as ammonia, causing irreversible brain damage, coma, and eventually death. Who? Urea cycle disorders (UCD) are estimated to affect 1 in every 25,000 births. This means that every year there should be about 155 new cases of UCD's. There are only about 200 people alive and receiving treatment. Though treatment is available, if undiagnosed these children die. When?

6. UREA CYCLE DISORDERS: Contact A Family - For Families With Disabled Children: In urea cycle disorders. home. more about us. in your area. conditions information. index of conditions. about the directory. internet medical info. useful addresses. patterns of inheritance. dictionaries glossaries The most common of the urea cycle disorders is OTC deficiency http://www.cafamily.org.uk/Direct/u14.html

printer friendly UREA CYCLE DISORDERS home more about us in your area conditions information ... how you can help search this site 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.

7. Urea Cycle Disorders urea cycle disorders. National urea cycle disorders Foundation. 4841 Hill Street Includes numerousadditional resources. UCD (urea cycle disorders) Support Network 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

8. Urea Cycle Disorders Internet links on urea cycle disorders. Elsewhere on the Web. urea cycle disorders. I am your Guide, From Mary Kugler, Your Guide to Rare / Orphan Diseases. http://rarediseases.about.com/cs/ureacycledisord/a/041203.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Types of Diseases Metabolic Disorders ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Email to a friend Print this page Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. 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 ALD and Lorenzo's Oil The Elephant Man's Bones Reveal Mystery Prune Belly (Eagle-Barrett) Syndrome Progeria Syndromes ... Mad Cow Disease and Humans What's Hot Autoimmune Kidney Disease Tourette Syndrome Christmas Disease Bugs, PANDAS, and Tics ... Dystonia and Botox Injections Urea Cycle Disorders From Mary Kugler Your Guide to Rare / Orphan Diseases Sign up for my Newsletter Group of inborn errors of metabolism What are urea cycle disorders?

9. Urea Cycle Disorders Urea Cycle Defects. Hyperammonemias. Carbamoyl Phosphate Synthetase I (CPSI) Deficiency. Ornithine Transcarbamylase (OTC) Deficiency. N-Acetylglutamate Synthetase Deficiency. Argininosuccinic Aciduria - Argininosuccinate Lyase Deficiency http://web.indstate.edu/thcme/mwking/ureacycledisorders.html

Urea Cycle Defects Hyperammonemias Carbamoyl Phosphate Synthetase I (CPS-I) Deficiency Ornithine Transcarbamylase (OTC) Deficiency N-Acetylglutamate Synthetase Deficiency Argininosuccinic Aciduria Argininosuccinate Lyase Deficiency Hyperargininemia Arginase Deficiency Citrullinemia - Argininosuccinate Synthetase Deficiency Ornithine Aminotransferase Deficiency back to Inborn Errors Page Return to Medical Biochemistry Page Michael W. King, Ph.D / IU School of Medicine / mking@medicine.indstate.edu Last modified: Thursday, 10-May-2001 10:15:56 EST

10. ORPHAN EUROPE - Urea Cycle Disorders What are urea cycle disorders ? urea cycle disorders (UCD) belong to the group of disorders known as inborn errors of metabolism. 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? ... Congenital Sucrase-Isomaltase Deficiency 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.

11. Urea Cycle Disorders An Overview. The urea cycle has two functions. is less clearly established. The urea cycle disorders are inherited as autosomal recessive traits clinical presentation of the urea cycle disorders is related to the accumulation http://www.meadjohnson.com/metabolics/ureacycledisorders.html

An Overview The urea cycle has two functions. First, it serves to convert dietary nitrogen not used for net biosynthesis purposes into urea, thereby preventing the accumulation of ammonium and glutamine, both of which are responsible for encephalopathy. Second, it contains many of the reactions for the de novo biosyntheses and degradation of arginine. The urea cycle includes five enzymes that catalyze the formation of urea and intermediate substrates and one enzyme that catalyzes the formation of an allosteric regulator. Five well-described diseases (each with genetic and phenotypic variability) have been described: deficiencies of carbamyl phosphate synthetase (CPSD), ornithine transcarbamylase (OTCD), argininosuccinic acid synthetase (ASD), argininosuccinase (ALD) and arginase (ARD). The late-onset form of OTCD (males and females) comprises the largest group of patients. In addition, a few patients have been described as having N-acetylglutamate synthetase deficiency (NAGSD), N-acetylglutamate being an allosteric regulator of CPS synthesis; the clinical and biochemical phenotype of NAGSD is unclear. Because the physiologic defect resides in the inability to synthesize urea, the principal waste nitrogen product, therapeutic strategy is directed at both reducing the requirement for ureagenesis and exploiting pathways for the synthesis and excretion of other waste nitrogen products that may serve as substitutes for urea.

12. What Is A Urea Cycle Disorder? What is a Urea Cycle Disorder? There are six different urea cycle enzymes in the body, and therefore five different urea cycle disorders http://www.vanhosp.bc.ca/html/wellness_amdc_findout_urea_whatis.html

Home Adult Metabolic Diseases Find Out About a Specific Disease Urea Cycle Defects What is a Urea Cycle Disorder? How do People Get Urea Cycle Disorders? How are Urea Cycle disorders treated? Resources References What is a Urea Cycle Disorder? A urea cycle disorder is a genetic disease that affects how protein is broken down in the body. It is therefore classified as a nutritional or metabolic disorder. There are six different urea cycle enzymes in the body, and therefore five different urea cycle disorders: CPS deficiency (carbamylphosphate) AL deficiency (argininosuccinic acid lyase) AS deficiency (argininosuccinic acid synthetase) Arginase deficiency OTC deficiency (ornithine transcarbamylase) NAGS deficiency (n-acetylglutamate synthase) The name of the disorder indicates the enzyme that is missing. What is the Urea Cycle? The urea cycle is a series of steps that uses all of the above enzymes to change the excess protein in food into a safe waste product that can be eliminated in urine. This waste product is called urea How does the Urea Cycle work?

13. How Are Urea Cycle Disorders Treated? How are urea cycle disorders treated? Diet. Some people with urea cycle disorders need to take medication to help rid their bodies of excess ammonia. http://www.vanhosp.bc.ca/html/wellness_amdc_findout_urea_howare.html

Home Adult Metabolic Diseases Find Out About a Specific Disease Urea Cycle Defects ... How do People Get Urea Cycle Disorders? How are Urea Cycle disorders treated? Resources References How are Urea Cycle disorders treated? Diet Knowing how the urea cycle works will help you to understand the treatment better. The first part of treatment is reducing protein in the diet . If less protein is taken in, there is less ammonia for the urea cycle to remove. Protein in the diet is lowered by avoiding protein-rich foods like meat and milk. Examples of low protein foods are fruits, vegetables and starches. These foods provide calories without loading the body with protein. Calories are a very important part of the diet. The body can use them for fuel without breaking down its own reserves. If the body does not have adequate fuel in the form of calories, it will actually begin to break down muscle to provide energy. Muscle is protein and will increase ammonia levels in the same way as eating protein will. The metabolic dietician works with people to make adjustments to diet to ensure that it is providing adequate calories and nutrients. Medications Some people with urea cycle disorders need to take medication to help rid their bodies of excess ammonia.

14. Urea Cycle Disorders urea cycle disorders National urea cycle disorders Foundation National network. Dues $35. WRITE National urea cycle disorders Foundation 4841 Hill St. 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 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 ... 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: 818-248-9770 E-MAIL: info@nucdf.org WEBSITE: http://www.nucdf.org

15. Citrullinemia 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 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 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 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.

16. Urea Cycle Disorder Find it Here. Urea Cycle Disorder. urea cycle disorders Information about urea cycle disorders-a frequently overlooked, fatal illness affecting children. http://www.health-nexus.com/urea_cycle_disorder.htm

Health-Nexus.Net Health-Nexus.Org The #1 Health information site Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Urea Cycle Disorder National Urea Cycle Disorder Foundation linking families, friends and professionals who are dedicated to the identification, treatment and cure. True Kids Support Page A gathering place for people who care for a transplanted child who was born with a urea cycle disorder. Includes a message board and links. UREA CYCLE DISORDER - A DAD's STORY Urea Cycle Disorders Information about Urea Cycle Disorders-a frequently overlooked, fatal illness affecting children. ... A Urea Cycle disorder is an inherited genetic defect. ... Urea Cycle Disorder Discussion Board Urea Cycle Disorder Discussion Board What is a Urea Cycle Disorder?

17. CCHS Clinical Digital Library Clinical Resources by Topic Metabolic Disorders. urea cycle disorders Clinical Resources. http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/aminoacid/urea.htm

Clinical Resources by Topic: Metabolic Disorders Urea Cycle Disorders Clinical Resources Pediatrics Genetics Clinical Guidelines News ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Urea Cycle Disorders Patient/Family Resources Feldman: Sleisenger and Fordtran's Gastrointestinal and Liver Disease 7th Ed.-2002 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 65 - Inherited Metabolic Disorders of the Liver: Access document Introduction: Access document Urea Cycle Defects: Access document References: Access document Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 31 - Aminoacidopathies and Organic Acidopathies, Mitochondrial Enzyme Defects, and Other Metabolic Errors: Access document Introduction: Access document Aminoacidopathies and Organic Acidopathies: Access document Reviews and Selected Updates: Access document References: Access document Goldman: Cecil Textbook of Medicine 21st Ed.-2000 (MD Consult):

18. CCHS Clinical Digital Library urea cycle disorders Patient/Family Resources. Miscellaneous urea cycle disorders Patient/Family Resources Healthfinder (US DHHS) Homepage http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/aminoacid/urea.htm

Patient/Family Resources by Topic: Metabolic Disorders Urea Cycle Disorders Patient/Family Resources Spanish Miscellaneous See also: Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources Urea Cycle Disorders Clinical Resources National Urea Cycle Disorder Foundation: Homepage Understanding the Basics: Access document MEDLINE plus Medical Encyclopedia: Table of contents Hereditary Urea Cycle Abnormality: English Spanish Spanish MEDLINE plus Medical Encyclopedia: Table of contents Hereditary Urea Cycle Abnormality: English Spanish Miscellaneous Urea Cycle Disorders Patient/Family Resources Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed. YAHOO - Health:Diseases and Conditions:Genetic Disorders Additional Genetic Disorders resources ( These sites have not been reviewed.

19. Urea Cycle Disorder (UCD), Cincinnati Children's Hospital Medical Center These urea cycle disorders are named based on the initials of the missing enzyme. They are There currently is no cure for urea cycle disorders. http://www.cincinnatichildrens.org/svc/prog/liver/diseases/urea-cycle.htm

Home Contact Us Site Map Go to Advanced Search ... Progressive Familial Intrahepatic Cholestasis (PFIC) Urea Cycle Disorder Wilson's Disease Liver Transplant Liver Care Center Glossary Liver-Related Resources ... Contact Us Liver Diseases and Treatments Urea Cycle Disorder (UCD) Related Services Liver Care Center Explanation Causes Symptoms l Diagnosis l Treatment l Prognosis What is urea cycle disorder (UCD)? A urea cycle disorder (UCD) is an inherited disease caused by the lack of an enzyme needed to break down ammonia in the body. Ammonia is a waste product that must be removed by the body. Everyone needs protein, which is found in foods like dairy products, meat and fish. When a person eats food that contains protein, the body breaks it down into amino acids (the building blocks of protein that are used by the body for growth and tissue repair) and uses only what it needs. It changes the rest into ammonia, which must then be removed by the body. In a healthy person, the liver supplies six enzymes to break down the ammonia into urea, which is then removed from the body in urine. This entire process is called the urea cycle and it occurs in liver cells. The liver in a person with urea cycle disorder is missing an enzyme necessary to convert ammonia into urea. As a result, ammonia, a highly toxic substance, builds up in the bloodstream and is not removed from the body. Untreated, the high amounts of ammonia can cause brain damage, coma and eventually death.

20. Urea Cycle Disorders Urea Cycle Defects. http://www.indstate.edu/thcme/mwking/ureacycledisorders.html

Urea Cycle Defects Hyperammonemias Carbamoyl Phosphate Synthetase I (CPS-I) Deficiency Ornithine Transcarbamylase (OTC) Deficiency N-Acetylglutamate Synthetase Deficiency Argininosuccinic Aciduria Argininosuccinate Lyase Deficiency Hyperargininemia Arginase Deficiency Citrullinemia - Argininosuccinate Synthetase Deficiency Ornithine Aminotransferase Deficiency back to Inborn Errors Page Return to Medical Biochemistry Page Michael W. King, Ph.D / IU School of Medicine / mking@medicine.indstate.edu Last modified: Thursday, 10-May-2001 10:15:56 EST

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