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

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2. Urea Cycle Disorders Information, medical links and a message board. The true story of a one family's struggle with this illness. http://www.2endure.com

3. What Is A Urea Cycle Disorder? urea cycle disorders are included in the category of inborn errors ofmetabolism. 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.

4. Urea Cycle Disorders urea cycle disorders. National urea cycle disorders Foundation. 4841 Hill Street 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

5. Urea Cycle Disorders Information about urea cycle disordersa frequentlyoverlooked, fatal illness affecting children. http://www.2endure.com/mysterious illness.html

6. Disease Descriptions urea cycle disorders Background Rebecca S. Wappner, M.D. Director, Metabolism Clinic Team Riley Hospital for Children, Indianapolis, IN http://www.savebabies.org/diseasedescriptions.htm

HOME Newborn Screening Information Find out what your state screens for, answers to frequently asked questions, and much more. Disease Descriptions Read a short description of each of the over 55 disease currently detectable through newborn screening. Family Stories Meet the families behind the statistics Promoting Screening Tips for promoting screening awareness. Awareness Projects Learn about the numerous grass-roots projects to help raise the awareness of newborn screening. Resource Library Locate numerous newborn screening related medical articles, awareness materials, research participation forms, and much more. Event Calendar Find a listing on Newborn screening related events. Fundraising Activities Help raise much needed funds by hosting or participating in a fundraising event. Other Sites of Interest Find a listing of other newborn screening related websites. SEARCH OUR SITE Disease Descriptions All the following diseases and conditions are currently detectable through newborn screening. At the present time, the same filter paper blood spot specimen can test for approximately 55 diseases (using several different screening methodologies/equipment).

7. Urea Cycle Disorders Library U V. urea cycle disorders. Who to Contact. National UreaCycle Disorders Foundation 4841 Hill St. La Canada, CA 91011 1-800 http://www.familyvillage.wisc.edu/lib_urea.htm

Urea Cycle Disorders Who to Contact Where to Go to Chat with Others Personal Accounts Learn More About It ... Search AltaVista 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 The National Urea Cycle Disorders Foundation is primarily a support group with families affected with Urea Cycle Disorders. The Foundation provides educational as well as emmotional support. In addition, they participate in medical research and gene therapy research to look for a cure. Where to Go to Chat with Others NUCDF Discussion Board Personal Accounts Ornithine Transcarbamylase Deficiency Learn More About It What is a Urea Cycle Disorder? Management of Urea Cycle Disorders Argininemia from Ped Base Argininosuccinase Acid Lyase (Argininosuccinic Aciduria) Deficiency from Ped Base ... Carbamyl Phosphate Synthetase from OMIM Web Sites National Urea Cycle Disorders Foundation Web Site Back to [ U - V Family Village Home Library Coffee Shop ... Information Last Updated March 9, 1999 by familyvillage@waisman.wisc.edu

8. 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. http://www.2endure.com/mysterious%20illness.html

9. Specific Diagnoses (C - D) C D Specific Diagnoses (C - D). C. Canavan Disease See Leukodystrophy; Cancer;Carbamyl Phosphate Synthesis (CPS) Deficiency See urea cycle disorders; http://www.familyvillage.wisc.edu/card_cd.htm

Specific Diagnoses (C - D) C Canavan Disease See Leukodystrophy Cancer Carbamyl Phosphate Synthesis (CPS) Deficiency See Urea Cycle Disorders Carbohydrate-Deficient Glycoprotein Syndrome Carnitine Disorders Cardio-Facio-Cutaneous Syndrome Cartilage-Hair Hypoplasia See Growth Disorders Celiac Central Auditory Processing Disorder Central Hypoventilation Syndrome ... Chromosome Disorders Chronic Epstein-Barr Virus See Chronic Fatigue Syndrome (CFS) Chronic Fatigue Immune Dysfunction Syndrome (CFIDS) See Chronic Fatigue Syndrome (CFS) Chronic Fatigue Syndrome (CFS) Chronic Myofascial Pain Syndrome See Myofascial Pain Syndrome Churg-Strauss Syndrome Citrullinemia See Urea Cycle Disorders Cleft Palate Cloaca See Anorectal Malformation Cockayne Syndrome Coffin-Lowry Syndrome Coffin Siris Syndrome ... Communication Disorders Congenital Adrenal Hyperplasia See Adrenal Hyperplasia Congenital Diabetes Insipidus See Diabetes Insipidus Congenital Diaphragmatic Hernia Congenital Fiber Type Disproportion Congenital Heart Defect See Heart Disorders Congenital Hypomyelination Myelin Disorders Congential Myotonic Muscular Dystrophy See Myotonic Muscular Dystrophy Conjoined Twins Cooley's Anemia See Thalassemia Cornelia de Lange Syndrome Craniofacial Disorders Creutzfeldt-Jakob Disease ... Cytomegalovirus (CMV) D Dandy Walker Deaf / Hard of Hearing Deaf-Blind Depression ... DiGeorge Syndrome Dipsogenic Diabetes Insipidus See Diabetes Insipidus Dizziness Down Syndrome Dwarfism ... Dystrophic Epidermolysis Bullosa Back to [ Specific Diagnoses Card Catalog A - B C - D E - F ... Information Last updated Monday, July 01, 2002 by

10. 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-01 10:15:56

11. UNTSHC Clinic Digital Library 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 http://unthsc-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.

12. Urea Cycle Disorders There are five different urea cycle enzymes in the body, therefore there arefive different urea cycle disorders CPS (carbamylphosphate) deficiency. http://www.csmd.ca/ucd.htm

Urea Cycle Disorders Home Up Phenylketonuria Galactosemia ... Gaucher's Disease [ Urea Cycle Disorders ] Glycogen Storage Disorders Fatty Oxidation Disorder Mitochondrial Disease Organic Acidemias ... Hereditary Tyrosinemia The "urea cycle" refers to a series of biochemical steps in which nitrogen is removed from the blood and converted to urea. When a urea cycle disorder interrupts these steps, the nitrogen accumulates in the form of ammonia, which is highly toxic when allowed to build up in the body. If the ammonia concentration reaches the brain through the blood, it causes irreversible brain damage and/or death. There are five different urea cycle enzymes in the body, therefore there are five different urea cycle disorders: CPS (carbamylphosphate) deficiency AL (argininosuccinic acid lyase) deficiency AS (argininosuccinic acid synthetase) deficiency Arginase deficiency OTC (ornithine transcarbamylase) deficiency The name of the disorder indicates which enzyme is missing. www.nucdf.org - the National Urea Cycle Disorder Foundation Return to "

13. ORPHAN EUROPE - Urea Cycle Disorders What are urea cycle disorders ? urea cycle disorders (UCD) belongto 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? ... keywords 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.

14. Indications Should my future children be screened for Cystinosis? Patient organization.urea cycle disorders What are urea cycle disorders; What are the symptoms; http://www.orphan-europe.com/1038817660.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 (N) Contact Table of contents: Cystinosis What is cystinosis What are the symptoms Disease management Should my future children be screened for Cystinosis? Patient organization Urea Cycle Disorders What are Urea Cycle Disorders What are the symptoms Later onset symptoms Disease management Should my future children be screened for UCD? Wilson's Disease What is Wilson's disease What are the clinical signs Disease management Is a low copper diet recommended Should the rest of the family be screened for Wilson's disease? Patient organization Acute Porphyria What is acute porphyria What are the symptoms How to reduce the risk of having an acute attack Should the rest of the family be screened for acute porphyria? Homocystinura What is homocystinuria What are the symptoms of homocystinuria Disease Management Should the rest of the family be screened for homocystinuria? Congenital Sucrase-Isomaltase Deficiency What is Congenital Sucrase-Isomaltase Deficiency (CSID) What are the symptoms Disease management Top of Page Website by Web Arts AG

15. Newborn Screening Program - Urea Cycle Disorders urea cycle disorders. Definition. Urea cycle. Newborn screening in Illinoisincludes 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.

16. A Newborn Screening Guide For Parents Amino Acid and urea cycle disorders. Babies with amino acid and urea cycle disorderscannot properly process amino acids, the building blocks of proteins. http://www.idph.state.il.us/HealthWellness/nbsparentguide.htm

A Newborn Screening Guide for Parents Biotinidase Deficiency Congenital Adrenal Hyperplasia Galactosemia Hypothyroidism ... Organic Acid Disorders Why does my baby need newborn screening? Since newborn screening is not a Newborn screening by the Illinois Department of Public Health (IDPH) is required by state law, and every baby born in the state is screened for these rare disorders. As a parent, you may refuse newborn screening only if your religious beliefs and practices do not allow testing. You may be asked to sign a form if you refuse to have your baby tested for these serious disorders. How will you test my baby? What disorders are included with newborn screening? Biotinidase Deficiency Congenital Adrenal Hyperplasia Galactosemia Hypothyroidism ... Phenylketonuria Phenylketonuria (PKU) may occur in one of every 12,000 births. Babies with PKU, an amino acid disorder, cannot properly use a substance found in proteins, phenylalanine. If this problem is not found and treated early, PKU can cause developmental delays and mental retardation. A baby with PKU is given a special formula and diet, and needs regular medical care. Sickle Cell Disease, Trait and Related Conditions

17. The Contact A Family Directory - UREA CYCLE DISORDERS printer friendly, urea cycle disorders, Hyperargininaemia (Arginase deficiency).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 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.

18. The Contact A Family Directory - Index N NAGS Deficiency see urea cycle disorders NARP see Mitochondrial Cytopathies andRelated Disorders NBCCS see Gorlin Syndrome Nacetyl glutamate synthase see http://www.cafamily.org.uk/Idx/n.html

printer friendly home more about us in your area ... how you can help search this site Please use the Index below to access the condition on which you require information. If you do not find what you want in the Index then try our search facility in the navigator on the left. Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. NAGS Deficiency see Urea Cycle Disorders NARP see Mitochondrial Cytopathies and Related Disorders NBCCS see Gorlin Syndrome N-acetyl glutamate synthase see Urea Cycle Disorders Naevus Flammus see Vascular Birthmarks Nager Syndrome Nail-Patella Syndrome Narcolepsy ... Necrotising Fasciitis Nemaline Myopathy see Muscular Dystrophy and neuromuscular disorders Neonatal Death see Stillbirths and Neonatal Deaths Neonatal Haemochromatosis see Liver Disease Neonatal Hepatitis see Liver Disease Neonatal Hypoglycemia-Visceromegaly-Macroglossia-Microcephaly see Beckwith-Wiedemann Syndrome Nephrogenic Diabetes Insipidus see Pituitary Disorders Nephronopthisis see Kidney Disease Nephrotic Syndrome see Kidney Disease Netherton's Syndrome see Ichthyosis Neural Tube Defect see Spina Bifida Neuroblastoma Neurofibromatosis Neuronal Ceroid Lipofuscinosis Type 1 (infantile) see Batten Disease Neuronal Ceroid Lipofuscinosis Type 2 (late infantile) see Batten Disease Neuronal Ceroid Lipofuscinosis Type 3 (juvenile) see Batten Disease Neuropathy, Ataxia and Retinitis Pigmentosa see

19. Metabolic Genetic Conditions Foundation; urea cycle disorders. Also See National organizationsinformation on genetic conditions or birth defects; Association http://www.kumc.edu/gec/support/metaboli.html

Metabolic Conditions Includes: aspartylglusomarinuria, biotinidase deficiency , carbohydrate deficient glycoprotein syndrome (CDGS), Crigler-Najjar syndrome , cystinosis, diabetes insipidus, Fabry fatty acid metabolism disorders galactosemia , Gaucher, glucose-6-phosphate dehydrogenase (G6PD), glutaric aciduria, Hurler, Hurler-Scheie, Hunter, hypophosphatemia, I-cell, Krabbe , lactic acidosis, long chain 3 hydroxyacyl CoA dehydrogenase deficiency (LCHAD), lysosomal storage diseases, mannosidosis maple syrup urine , Maroteaux-Lamy, metachromatic leukodystrophy, mitochondrial , Morquio, mucopolysaccharidosis , neuro-metabolic, Niemann-Pick, organic acidemias , purine, phenylketonuria (PKU) , Pompe, porphyria , pseudo-Hurler, pyruvate dehydrogenase deficiency, Sandhoff, Sanfilippo, Scheie, Sly, Tay-Sachs, trimethylaminuria (Fish-Malodor syndrome) urea cycle conditions , vitamin D deficiency rickets Association for Neuro-Metabolic Disorders 5223 Brookfield Lane Sylvania, OH 43560-1809 Phone: (419) 885-1497 E-mail: volk4olks@aol.com

20. Health Information Resource Database: National Urea Cycle Disorders Foundation National urea cycle disorders Foundation. Abstract. This nonprofit organization isdedicated to the identification, treatment and cure of urea cycle disorders. http://www.health.gov/nhic/NHICScripts/Entry.cfm?HRCode=HR3331

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