41. Untitled Treatment of Congenital urea cycle disorders with IV Sodium Benzoate Sodium Phenylacetate.PRINCIPAL INVESTIGATOR Robert D. Steiner, MD, (503) 4947859. http://cdrc.ohsu.edu/home2/Clinical_Programs_at_CDRC/Metabolic_Clinic/Available_

IRB #: 3378-B FB Approved PATIENT NAME PATIENT DOB OHSU MED REC # OREGON HEALTH SCIENCES UNIVERSITY CONSENT FORM Phenylacetate PRINCIPAL INVESTIGATOR : Robert D. Steiner, MD, (503) 494-7859. Co-Investigators Markus Grompe MD; Cary Harding, MD; Susan Hayflick; MD; David Koeller,MD PURPOSE You have been invited to participate in this research because you have been diagnosed with an enzyme deficiency that results in abnormal ammonia metabolism. Due to this enzyme deficiency, you may develop high levels of ammonia in the blood which causes severe toxicity including vomiting, tiredness and coma. Dr. Robert Steiner and other physicians, who are listed above as coinvestigators and who are on the staff of the Metabolic Clinic, are participating in a national collaborative research study with Ucyclyd Pharma Inc. to help determine how to best treat people with urea cycle disorders who develop very high ammonia levels. In the event of an acute crisis, we would use an intravenous (IV) dosage form of Sodium Benzoate and Sodium Phenyl acetate to lower the elevated ammonia levels rapidly.

42. 239: Phenotypic Correlation And Diagnosis Of Urea Cycle Disorders With Stable Is Program Nr 239 Phenotypic correlation and diagnosis of urea cycledisorders with stable isotope infusions. B. Lee 1 , H. Yu 2 , F http://www.faseb.org/genetics/ashg99/f239.htm

Program Nr: 239 Phenotypic correlation and diagnosis of urea cycle disorders with stable isotope infusions. B. Lee , H. Yu , F. Jahoor , W. O'Brien , A.L. Beaudet , P. Reeds N-urea, O-urea, and N-glutamine enrichments measured in blood during intravenous co-infusions of 5- N-glutamine and O-urea. The ratio of N-urea/ N-urea/ N-glutamine ratio is a sensitive index of in vivo urea cycle activity, correlates with clinical everity and is a sensitive tool for evaluating efficacy of therapeutic modalities as well as for the diagnosis and management of urea cycle patients.

43. UASOM Main Digital Library urea cycle disorders Clinical Resources. Chapter 64 Inherited Metabolic Disordersof the Liver Access document Urea Cycle Defects Access document. http://uasom-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 Lister Hill 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 1st Ed.-1999 (MD Consult): Table of contents Lister Hill Library subscription INFO Chapter 31 - Aminoacidopathies and Organic Acidopathies, Mitochondrial Enzyme Defects, and Other Metabolic Errors: Access document Aminoacidopathies and Organic Acidopathies: Access document Goldman: Cecil Textbook of Medicine 21st Ed.-2000 (MD Consult): Table of contents Lister Hill Library subscription INFO Chapter 201 - Approach to the Patient with Metabolic Disease Access document Chapter 211 - Diseases of the Urea Cycle: Access document Other MD Consult Reference Books: Table of contents Lister Hill Library subscription INFO All MD Consult Reference Books for Neurology (eMedicine): Table of contents Inherited Metabolic Disorders: Access document Hyperammonemia: Access document Ataxia with Identified Genetic and Biochemical Defects: Access document Pediatrics Resources

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

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 cycle involving incorporation of waste nitrogen from the breakdown of dietary proteins into a form (urea) that can be removed from the body. The liver makes urea from nitrogen waste, which is then excreted in the urine. Several hereditary conditions can cause this problem. These are genetic diseases caused by a the lack of a gene to make 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

45. MEDLINEplus: Metabolic Disorders (Scientific American, Inc.); What is a Urea Cycle Disorder? (Nationalurea cycle disorders Foundation); What Is NiemannPick Disease? http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html

Skip navigation Other health topics: A B C D ... List of All Topics Metabolic Disorders Contents of this page: General/Overviews Anatomy/Physiology Prevention/Screening Research ... Organizations Search MEDLINE for recent research articles on Metabolic Disorders You may also be interested in these MEDLINEplus related pages: Celiac Disease Gaucher's Disease Hemochromatosis Phenylketonuria ... Genetics/Birth Defects General/Overviews Metabolic Disorders Anatomy/Physiology Metabolism (National Center for Biotechnology Information) Clinical Trials ClinicalTrials.gov: Metabolic Diseases (National Institutes of Health) ClinicalTrials.gov: Mucolipidoses (National Institutes of Health) ClinicalTrials.gov: Mucopolysaccharidoses (National Institutes of Health) Prevention/Screening Laypersons Guide to Tandem Mass Spectrometry and Newborn Screening (Save Babies Through Screening) Newborn Screening Tests (March of Dimes Birth Defects Foundation) Also available in: Spanish Simple Test Could Save Your Baby's Life: A Parent's Guide to Newborn Screening (Save Babies Through Screening) Research Gene Therapy Repairs Neurological Damage in Animal Model for Rare Metabolic Disease (National Institute of Neurological Disorders and Stroke) Specific Conditions/Aspects About Primary Hyperoxaluria (Oxalosis and Hyperoxaluria Foundation) Amyloidosis (Mayo Foundation for Medical Education and Research) Biotinidase Deficiency (Save Babies Through Screening) Carnitine Palitoyl Transferase Deficiency Type II (CPT-II) (Save Babies Through Screening) Citrullinemia (Save Babies Through Screening)

46. Health Library - Urea Cycle Disorders Search. urea cycle disorders. Self Help Clearinghouse. National UreaCycle Disorders Foundation. National network. Founded http://www.stjosephhealth.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29u

47. Health Library - Urea Cycle Disorders Your Health. Search. urea cycle disorders. Self Help Clearinghouse. Nationalurea cycle disorders Foundation. National network. http://yourhealth.stlukesonline.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=

48. Health Library - Urea Cycle Disorders Advanced Search. urea cycle disorders. Self Help Clearinghouse. Nationalurea cycle disorders Foundation. National network. http://www.stjudemedicalcenter.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=s

49. Silver Hill Hospital Digital Library urea cycle disorders Patient/Family Resources. Miscellaneous Urea CycleDisorders Patient/Family Resources Healthfinder (US DHHS) Homepage http://silverhillhospital-dl.slis.ua.edu/patientinfo/metabolism/inborn/aminoacid

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.

50. Silver Hill Hospital Digital Library urea cycle disorders Clinical Resources. Urea (Keyword search) List ofdocuments. Miscellaneous urea cycle disorders Clinical Resources http://silverhillhospital-dl.slis.ua.edu/clinical/metabolism/inborn/aminoacid/ur

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 Neurology (eMedicine): Table of contents Inherited Metabolic Disorders: Access document Hyperammonemia: Access document Ataxia with Identified Genetic and Biochemical Defects: Access document Pediatrics Resources See also General Pediatrics Resources Emergency Medicine (eMedicine): Table of contents Pediatrics, Inborn Errors of Metabolism: Access document Pediatrics (eMedicine): Table of contents Ornithine Transcarbamylase Deficiency: Access document Argininosuccinate Lyase Deficiency: Access document Carbamoyl Phosphate Synthetase Deficiency: Access document Arginase Deficiency: Access document Citrullinemia: Access document Hyperammonemia: Access document Pediatric Database (PEDBASE) List of documents Ornithine Transcarbamylase (OTC) Deficiency: Access document Argininosuccinic Aciduria: Access document Carbamyl Phosphate Synthetase (CPS) Deficiency: Access document Argininemia: Access document Citrullinemia: Access document Genetics Resources See also General Genetics Resources Online Mendelian Inheritance in Man: Homepage Ornithine Transcarbamylase (OTC) Deficiency: Access document Ornithine Aminotransferase Deficiency: Access document Argininosuccinic Aciduria: Access document Carbamyl Phosphate Synthetase I (CPS-I) Deficiency:

51. Urea Cycle Disorders Clinical Resources urea cycle disorders Clinical Resources. Urea (Keyword search) List ofdocuments. Miscellaneous urea cycle disorders Clinical Resources http://baptistnashville-dl.slis.ua.edu/clinical/metabolism/inborn/aminoacid/urea

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 Neurology (eMedicine): Table of contents Inherited Metabolic Disorders: Access document Hyperammonemia: Access document Ataxia with Identified Genetic and Biochemical Defects: Access document Pediatrics Resources See also General Pediatrics Resources Emergency Medicine (eMedicine): Table of contents Pediatrics, Inborn Errors of Metabolism: Access document Pediatrics (eMedicine): Table of contents Ornithine Transcarbamylase Deficiency: Access document Argininosuccinate Lyase Deficiency: Access document Carbamoyl Phosphate Synthetase Deficiency: Access document Arginase Deficiency: Access document Citrullinemia: Access document Hyperammonemia: Access document Pediatric Database (PEDBASE) List of documents Ornithine Transcarbamylase (OTC) Deficiency: Access document Argininosuccinic Aciduria: Access document Carbamyl Phosphate Synthetase (CPS) Deficiency: Access document Argininemia: Access document Citrullinemia: Access document Genetics Resources See also General Genetics Resources Online Mendelian Inheritance in Man: Homepage Ornithine Transcarbamylase (OTC) Deficiency: Access document Ornithine Aminotransferase Deficiency: Access document Argininosuccinic Aciduria: Access document Carbamyl Phosphate Synthetase I (CPS-I) Deficiency:

52. Nutritional And Metabolic Diseases Foundation (US). Urea Cycle Disorder (not on MeSH) The US Nat'l UreaCycle Disorders Foundation; Information on urea cycle disorders; TRUE http://www.mic.ki.se/Diseases/c18.html

search help staff Nutritional and Metabolic Diseases 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. Alphabetical List of Diseases Search PubMed at NCBI/NLM 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) Nutritional Analysis Tool, ver 2.0 - U of Illinois (US) 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 Food Color Facts , and a Glossary of Food-Related Terms About Glutamate and Monosodium Glutamate - IFIC On Antioxidants and some questions/answers re Selenium G Combs ] - Cornell Cooperative Extension Facts about some dietary supplements - NIH Clinical Center (US) About Functional Food A Dowden ] - (UK) Epicurious Dictionary of Food The American Dietetic Association , and their position on Vegetarian Diets The Water FAQ - SoftWater.Com (US)

53. Adjunctive Therapy For Urea Cycle Disorders Licensed Return to PJ Online Home Page The Pharmaceutical Journal Vol 264 No 7096 p718May 13, 2000 Clinical. Adjunctive therapy for urea cycle disorders licensed. http://www.pharmj.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.

54. Urea Cycle : Meddie Health Search Mead Johnson urea cycle disorders An in depth article about this disease, startingwith an overview and introduction leading to screening and management. http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Ur

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Urea Cycle ITEMS: LINKS: Mead Johnson: Urea Cycle Disorders An in depth article about this disease, starting with an overview and introduction leading to screening and management. (Rating: 0.00 Votes: 0) Rate It National Urea Cycle Disorders Foundation Information about the organization as well as the disease. Family support, membership, newborn screening project and medical information. (Rating: 0.00 Votes: 0) Rate It Urea Cycle Disorders Information, medical links and a message board. The true story of a one family's struggle with this illness. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

55. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details Study of Treatment and Metabolism in Patients With urea cycle disorders.This study is currently recruiting patients. Sponsored by http://www.clinicaltrials.gov/ct/gui/show/NCT00004307?order=13

56. MSN Health - Arginino Succinase Type nord Urea Cycle Disorder, Citrullinemia Type nordUrea Cycle Disorder, OTC Type nord urea cycle disorders shc Urea Cycle http://content.health.msn.com/content/healthwise/106/26297.htm

MARCH 31, 2003 Join Sign In Search Health: Health Home Condition Centers Fitness Staying Well Clinical Trials Medical Library Library Overview Ask A Question Health-E-Meters Medical Encyclopedia ... Quick Facts [sponsored] Children's Growth Heart Failure? Insulin-dependent? [sponsored] Parkinson's Help Home Defibrillator Trouble Focusing? For the latest MSNBC Health News, click here. Medical Library Medical Encyclopedia Article Health Topics Symptoms Medical Tests Wellness ... Support Organizations Search the Help All Topics Click a letter to see a list of topics beginning with that letter A B C D ... UV U. U.S. Consumer Product Safety Commission - Consumer Helpline [shc] U.S. Customs Service - Child Abuse Helpline [shc] U.S. Equal Employment Opportunity Commission - Disability Helpline [shc] U.S. Government Federal Information Center - Legislation Helpline [shc] ... back to top UA UAB Eat Right - Cholesterol Helpline [shc] back to top UC UCE [nord] back to top UL Ulcer, Peptic [major-topic] Ulnar-Mammary Syndrome [nord] Ulnar-Mammary Syndrome of Pallister [nord] Ultrasound for benign prostatic hyperplasia (BPH) [test-detail] ... back to top UM Umbilical Hernia in Children [mini-topic] UMS [nord] back to top UN Unconjugated Benign Bilirubinemia [nord] Unconventional Medicine [special-topic] Undescended Testicle [mini-topic] Undiagnosed Illness [shc] ... Unilateral Ichthyosiform Erythroderma with Ipsilateral Malformations, Limb [nord]

57. IXth International Congress Of Inborn Errors Of Metabolism ICIEM 2003 UCD Satellite Meeting New Developments in urea cycle disorders. Therole of liver transplantation in the urea cycle disorders J. Leonard. http://www.iciem.org/ucd.htm

Home Page Online Registration Brisbane Tourism Congress Touring Options ... Organising Committees ICIEM 2003 UCD Satellite Meeting - New Developments in Urea Cycle Disorders The organisers would like to thank our generous sponsors: Venue: Manly Pacific Hotel, Manly in Sydney. Duration: 1½ days, commencing with a Welcome Reception at 18:30 pm on Saturday 30th August and ending at 13:30 pm on Monday 1st September Organising Committee: Claude Bachmann, Mark Batshaw, Mendel Tuchman, Judith Hammond and Bridget Wilcken. This satellite symposium to the Brisbane ICIEM Congress will be held in beautiful Sydney by the Pacific Ocean at Manly. The conference will bring the most recent research findings in basic, translational and therapeutic investigations of urea cycle disorders. The meeting will consist of 14 invited lectures by international scientists, poster session and short presentation of abstracts and will allow for formal and informal discussions. The proceedings of the meeting will be published in Molecular Genetics and Metabolism Proposed Programme Saturday 30th September Sunday 31st September Monday 1st September Welcome Chair - Claude Bachmann Introduction C. Bachmann

58. Health Library - Urea Cycle Disorders Events, SEARCH. urea cycle disorders. Self Help Clearinghouse. Nationalurea cycle disorders Foundation. National network. Founded http://www.muskogeehealth.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29u

59. Ornithine Transcarbamylase Deficiency! deficiencies. urea cycle disorders are tragic illnesses that are characterizedby excessive amounts of ammonia in the blood. Without http://www.aim4health.com/family/otc.htm

What is Ornithine Transcarbamylase Deficiency? Ornithine Transcarbamylase Deficiency is part of 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. The urea cycle involves a series of biochemical steps that takes place in the liver, in which nitrogen, a component of protein, is removed from the blood and converted into urea. There are five steps to the urea cycle, each of them requiring a specific enzyme. When one of these enzymes is missing, nitrogen accumulates and is converted into ammonia, a highly toxic substance, instead of urea. Ammonia reaches the brain through the blood, where it may cause irreversible brain damage and/or death. Ornithine transcarbamylase is one of these deficiencies. Urea cycle disorders are tragic illnesses that are characterized by excessive amounts of ammonia in the blood. Without treatment, these disorders can cause behavioral disorders, mental retardation, coma, or even death. What are the Symptoms?

60. BCM - Developmental Biology - Brendan Lee treatment. This is the focus of our gene replacement studies usinghelperdependent adenoviral vectors in urea cycle disorders. An http://www.bcm.tmc.edu/db/db_fac-lee.html

Brendan Lee E-mail: blee@bcm.tmc.edu Associate Professor, Baylor College of Medicine Associate Investigator , Howard Hughes Medical Institute B.S., City University of New York, Brooklyn College, 1986 M.D./Ph.D., State University of New York Health Science Center at Brooklyn, 1993 Postdoc, Mount Sinai School of Medicine, NY, 1990-91 Fellow, Baylor College of Medicine, Houston, TX, 1995-98 Genetic pathways that specify development and homeostasis: translational studies of skeletal and kidney development, and therapy for metabolic diseases and In contrast to developmental pathways, much basic information is already available in well studied biochemical pathways that are critical for homeostasis, such as the urea cycle. With this already in hand, we have attempted to translate the basic information into stable isotope based metabolic protocols in urea cycle patients to develop new tools for diagnosis and clinical management. By using this unique human disease model and physiologic tools that measure the in vivo activity of this pathway, we are asking questions about the interaction of the urea cycle and other biochemical pathways that constitute key gene-nutrient interactions during postnatal growth and development. The ultimate goal is to translate information from these well studied pathways into treatment. This is the focus of our gene replacement studies using helper-dependent adenoviral vectors in urea cycle disorders. An integral component of this is work focused on understanding and preventing the host innate immune response and acute toxicity associated with adenovirus treatment. The spectrum of my research program extends from gene identification in human disease, to correlating mechanisms of disease with normal biological processes, to measuring and manipulating these pathways for diagnosis and treatment in humans and in animal models.

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