61. Entrez PubMed The urea cycle disorders (UCDs) represent a group of inherited metabolic diseases with hyperammonemia as the primary laboratory abnormality. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

62. Entrez PubMed A survey was sent to the American members of the National urea cycle disorders Foundation to ascerta http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

63. Resource Library Find Information On Hereditary Urea Cycle NATIONAL urea cycle disorders FOUNDATION. 4841 Hill Street; La Canada, CA 91011 If there is a family history of urea cycle disorder, seek genetic http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

64. Metabolic Dietary Disorders Association, Australia. urea cycle disorders come in six different forms, each named after the missing or deficient enzyme. CPS Carbamyl Phosphate Synthetase http://www.mdda-australia.org/whatis/UCD.shtm

Welcome to the Metabolic Dietary Disorders Association PO BOX 33 MONTROSE VIC 3765 Aust: 1800 288 460. Int: 613 9728 8460 Collated and co-written by Rachael Sharman, Vice President MDDA. Co-written and edited by Dr Jim McGill, Director Metabolic Medicine, Royal Children's Hospital, Brisbane, Queensland, Australia. Urea Cycle Disorders Urea cycle disorders come in six different forms, each named after the missing or deficient enzyme. CPS - Carbamyl Phosphate Synthetase NAGS- N-Acetylglutamate Synthetase OTC - Ornithine Transcarbamylase ASD - Argininosuccinic Acid Synthetase (Citrullinemia) ALD - Argininosuccinase Acid Lyase (Argininosuccinic Aciduria) AG - Arginase In normal protein metabolism, nitrogen (a waste product of protein metabolism) is converted to urea and removed from the body via urine. In these disorders, the deficiency of one of the above enzymes leads to a build up of nitrogen in the body, in the form of ammonia. High ammonia levels can cause brain damage or death. All except OTC are inherited as autosomal recessive traits (that is, both parents are carriers of the faulty gene and all their children have a one in four, or 25% chance of inheriting the condition). OTC is referred to as a sex-linked or X-linked trait, meaning the mothers are carriers. In this case, male offspring have a 50% chance of inheriting the disorder, female offspring will have a 50% chance of becoming carriers. Some female carriers may exhibit characteristics of the disorder, and can have problems after childbirth as there is so much protein breakdown as the uterus shrinks.

65. Final Diagnosis -- Case 49 All of the urea cycle disorders have follow an autosomal recessive inheritence pattern, except for the ornithine transcarbamylase deficiency, http://path.upmc.edu/cases/case49/dx.html

Final Diagnosis arginosuccinase deficiency (hyperammonemia) FINAL DIAGNOSIS: Quantitative plasma amino acid levels reveal marked elevation of arginosuccinnic acid and its anhydrides. Citruline is also elevated. These results support the diagnosis of ARGINOSUCCINASE DEFICIENCY. Contributor's notes: The urea cycle is a six step biochemical pathway that the body uses to eliminate nitrogenous wastes (excess ammonia). The cycle is diagrammed below. The essential points are that nitrogen enters the cycle both in the form of ammonia and aspartate, and leaves the cycle as urea, which is rapidly and effectively cleared by the kidney. The nitrogens of interest are highlighted in red, and the enzymes that run the cycle are abreviated as follows: NAGS = N-acetyl-glutamate synthetase CPS = carbamyl phosphate synthetase OTC = ornithine transcabamylase AS = argininosuccinic acid synthetase AL = argininosuccnase (argininosuccinate lyase) AR = arginase If there is an inborn error of urea metabolism (ie., a deficiency of one of these enzymes), then the cycle does not run and urea is not generated. Rather, there is a build up of the urea cycle intermediates that precede the block and a toxic build up of ammonia within the blood. In the current case, the deficiency of arginosuccinase (sometimes referred to as arginosuccinic acid lyase) resulted in a build up of arginosuccininc acid, citrulline, glutamine and ammonia. While there is a wide range of expression in urea cycle abnormalities, including neonatal, childhood and adult presentations, many of the unfortunate individuals with these disorders present early and fare poorly. In such cases, liver transplantation may be considered.

66. In Vivo Urea Cycle Flux Distinguishes And Correlates With Phenotypic Severity In urea cycle disorders are a group of inborn errors of hepatic metabolism that result in often lifethreatening hyperammonemia and hyperglutaminemia. http://www.pnas.org/cgi/content/abstract/97/14/8021

Published online before print June 27, 2000, 10.1073/pnas.140082197 July 5, 2000 This Article Full Text Full Text (PDF) Supplemental Data ... Citation Map Services Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles Search for citing articles in: ISI Web of Science (14) PubMed PubMed Citation Articles by Lee, B. Articles by Reeds, P. Medical Sciences In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle (stable isotope / hyperammonemia / diagnosis / ornithine transcarbamylase / citrullinemia) Brendan Lee Hong Yu Farook Jahoor William O'Brien Arthur L. Beaudet , and Peter Reeds Departments of Molecular and Human Genetics and Pediatrics and Children's Nutrition Research Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 Edited by John W. Suttie, University of Wisconsin, Madison, WI, and approved May 11, 2000 (received for review February 25, 2000) Urea cycle disorders are a group of inborn errors of hepatic metabolism that result in often life-threatening hyperammonemia and hyperglutaminemia. Clinical and laboratory diagnosis of partial

67. ANOMALIES DU CYCLE DE L'UREE - UREA CYCLE DISORDERS Translate this page The urea cycle disorders Conference Group. Consensus statement from a conference for the management of patients with urea cycle disorders. J Pediatr. 2001. http://www.pediatrie.be/JPP.htm

M.C. NASSOGNE , G. TOUATI, B. HERON, D. RABIER, J.M. SAUDUBRAY. Introduction N Tableau chronique. Tableau neurologique Tableau psychiatrique : Tableau aigu Discussion Bibliographie LEONARD JV. Urea cycle defects. In: Fernandes J, Saudubray JM, van den Berghe G (eds) Inborn metabolic diseases. Springer. Berlin. 2000 pp . In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp Brusilow SW, Maestri NE. Urea cycle disorders : diagnosis, pathophysiology, and therapy. Adv Pediatr. 1996. The Urea Cycle Disorders Conference Group. Consensus statement from a conference for the management of patients with urea cycle disorders. J Pediatr. 2001. Batshaw ML, Roan Y, Jung AL, Rosenberg LA, Brusilow SW. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency. N Engl J Med. 1980. 14 : 1316- Dimagno EP, Lowe JE, Snodgrass PJ, Jones JD. Ornithine transcarbamylase deficiency : a cause of bizarre behavior in a man. N Engl J Med. 1986. 315 : 744-747. Drogari E, Leonard JV. Late-onset ornithine transcarbamylase deficiency in males. Arch Dis Child 1988. 63 : 1363-1367.

68. Indian Pediatrics - Editorial Laboratory evaluation of urea cycle disorders. J Pediatr 2001; 13 S2129. 3. Robinson BH, Oei J, Sherwood WG, Applegarth D, Wough L, Haworth J, et al. http://www.indianpediatrics.net/aug2004/aug-842-844.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2004; 41:842-844 Hyperammonemia with Citrullinemia D. Karnik N. Thomas* J. Jacob A. Oommen From the Departments of Neurological Sciences and *Neonatology, Christian Medical College Hospital, Vellore, India. Correspondence to: A. Oommen, Neurochemistry Laboratory, Department of Neurological Sciences, CMC Hospital, Vellore 632 004. Email : anna@cmcvellore.ac.in Manuscript received: September 5, 2003; Initial review completed: October 9, 2003; Revision accepted: January 27, 2004. Abstract: Two cases of hyperammonemia with elevated citrulline are reported, one resulting from a deficiency of pyruvate carboxylase and the other from a partial deficiency of argininosuccinate synthetase. Diagnosis was based on clinical, biochemical and amino acid profiles. The utility of amino acid determinations in hyperammonemia suspected to underlie an inborn error of metabolism is emphasized. Key words: Citrulline, Hyperammonemia.

69. Prospective Treatment Of Urea Cycle Disorders. Prospective treatment of urea cycle disorders. The families of 32 infants, among 43 identified prenatally as being at risk for a urea cycle disorder, http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/6853905.html

Prospective treatment of urea cycle disorders.We present a diagnostic and therapeutic protocol designed to prevent clinical expression of inborn errors of urea synthesis in the neonatal period, and discuss the long-term developmental outcome of survivors. The families of 32 infants, among 43 identified prenatally as being at risk for a urea cycle disorder, chose to have their infants treated according to a diagnostic and therapeutic protocol, beginning at birth. The therapy was effective in avoiding neonatal hyperammonemic coma and death in seven patients with carbamoyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, and argininosuccinate lyase deficiency. When treated prospectively, five of eight patients with ornithine transcarbamylase deficiency avoided severe hyperammonemia and survived the neonatal period. Two patients with carbamoyl phosphate synthetase deficiency and two with ornithine transcarbamylase deficiency have subsequently died; three additional patients with the latter disorder have received orthotopic liver transplants. Our experience suggests that these surviving patients have had a more favorable neurologic outcome than patients rescued from neonatal hyperammonemic coma However, all of them require a burdensome medical regimen and may have handicaps that include impairment of development and recurrent episodes of hyperammonemia.

70. Hyperimmunoglobulin E Syndrome Research continues into solving the puzzle of the urea cycle disorders. National urea cycle disorders Foundation. Understanding the Basics. http://www.malattiemetaboliche.it/articoli/urea_cycle_ disorders.htm

Urea Cycle Disorders From Mary Kugler,Your Guide to Rare / Orphan Diseases. Group of inborn errors of metabolism In 1999, 18-year-old Jesse Gelsinger volunteered to be part of a clinical trial testing a new approach to treating ornithine transcarbamylase deficiency, a urea cycle disorder he was diagnosed with at age 2 years. Sadly, Jesse died as a result of the clinical trial, but research continues into treating, and possible curing, urea cycle disorders. What are urea cycle disorders? The urea cycle is the metabolic process by which the body gets rid of nitrogen. There are six enzymes that take part in this process. A deficiency of any one of them upsets the process and causes excess nitrogen, in the form of ammonia, to accumulate in the body. The six urea cycle disorders are: carbamyl phosphate synthetase deficiency n-acetylglutamate synthetase deficiency ornithine transcarbamylase deficiency (most common type) argininosuccinic acid synthetase deficiency (also called citrullinemia) argininosuccinase acid lyase deficiency arginase deficiency How is it diagnosed?

71. Pioneering Procedure Eases Child's Rare Blood Disorder Because urea cycle disorders so rarely occur, the innovative technique has only been used four times since. Piestch inserted an intravenous catheter into http://www.mc.vanderbilt.edu/reporter/?ID=718

72. Ammonul Pharmacology, Pharmacokinetics, Studies, Metabolism - Sodium Phenylaceta urea cycle disorders can result from decreased activity of any of the following enzymes Nacetylglutamate synthetase (NAGS), carbamyl phosphate synthetase http://www.rxlist.com/cgi/generic4/ammonul_cp.htm

document.writeln(''); document.writeln(''); Sodium Phenylacetate and Sodium Benzoate Injection document.writeln(''); document.writeln(''); Company Issues Pacemaker Malfunction Warning Deaths Seen With Fentanyl Narcotic Pain Patch FDA Reviews Adult Antidepressant-Suicide Link CLINICAL PHARMACOLOGY Sodium phenylacetate and sodium benzoate are metabolically active compounds that can serve as alternatives to urea for the excretion of waste nitrogen. Phenylacetate conjugates with glutamine in the liver and kidneys to form phenylacetylglutamine, via acetylation. Phenylacetylglutamine is excreted by the kidneys via glomerular filtration and tubular secretion. The nitrogen content of phenylacetylglutamine per mole is identical to that of urea (both contain two moles of nitrogen). Similarly, preceded by acylation, benzoate conjugates with glycine to form hippuric acid, which is rapidly excreted by the kidneys by glomerular filtration and tubular secretion. One mole of hippuric acid contains one mole of waste nitrogen. It has been shown that phenylacetylglutamine and hippurate can serve as alternative vehicles to effectively reduce waste nitrogen levels in patients with deficiencies of urea cycle enzymes and, thus

73. Ammonul Indications, Dosage, Storage, Stability - Sodium Phenylacetate And Sodiu The urea cycle disorders Conference Group. Consensus statement from a conference for the management of patients with urea cycle disorders. http://www.rxlist.com/cgi/generic4/ammonul_ids.htm

document.writeln(''); document.writeln(''); Sodium Phenylacetate and Sodium Benzoate Injection document.writeln(''); document.writeln(''); Company Issues Pacemaker Malfunction Warning Deaths Seen With Fentanyl Narcotic Pain Patch FDA Reviews Adult Antidepressant-Suicide Link INDICATIONS AND USAGE AMMONUL is indicated as adjunctive therapy for the treatment of acute hyperammonemia and associated encephalopathy in patients with deficiencies in enzymes of the urea cycle. In acute neonatal hyperammonemic coma, in moderate to severe episodes of hyperammonemic encephalopathy, and in episodes of hyperammonemia which fail to respond to an initial course of AMMONUL therapy, hemodialysis is the most rapid and effective technique for removing ammonia In such cases, the concomitant administration of AMMONUL can help prevent the re-accumulation of ammonia by increasing waste nitrogen excretion DOSAGE AND ADMINISTRATION Administration must be through a central line. Administration through a peripheral line may cause burns. General AMMONUL is administered intravenously as a loading dose infusion administered over 90 to 120 minutes, followed by an

74. Nutritional And Metabolic Diseases urea cycle disorders (not on MeSH). The US Nat l urea cycle disorders Information about some urea cycle disorders Save Babies Through Screening http://www.mic.ki.se/Diseases/C18.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Nutritional and Metabolic Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Acid-Base Imbalance Acidosis Alkalosis Alkaptonuria ... Zellweger Syndrome Nutritional and Metabolic Diseases FDA Center for - (US) International Union of Nutritional Sciences - (AU) The USDA Nutrient Database for Standard Reference - (US) NATS - Nutritional Analysis Tool and System About some Diagnostic Tests Used in Evaluation of Malabsorption www.FoodSafety.gov Food Safety including a list of Organisms of concern - N Carolina Coop. Ext. Serv. (US) About Food Irradiation - BFE (DE) Facts about Food Irradiation - IAEA (AT) The British Nutrition Foundation Int'l Food Information Council , including a page on Food Additives , and Food Color Facts , and a

75. Pitch Letter urea cycle disorders are caused by high ammonia levels in the blood stream and, The National urea cycle disorders Foundation (NUCDF) is dedicated to http://www.personal.psu.edu/users/m/c/mch193/Writing Samples.htm

76. GEMdatabase - Selected Title TITLE, urea cycle disorders Overview. DESCRIPTION, This review focuses on the diagnosis, management, and genetic counseling of patients and families with http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=1015

77. UREA CYCLE DISORDERS urea cycle disorders (UCD) are a group of inherited conditions, characterised by enzyme deficiencies of the urea cycle. The result is waste nitrogen http://www.shsweb.co.uk/metabolic/3132/products/UREACYCLE.htm

UREA CYCLE DISORDERS Urea Cycle Disorders (UCD) are a group of inherited conditions, characterised by enzyme deficiencies of the urea cycle. The result is waste nitrogen accumulating as ammonia and glutamine, both of which are neurotoxic and may cause severe encephalopathy. The aim of dietary management is to restrict dietary protein by means of a low protein diet. The protein requirements are met by supplementing the diet with an essential amino acid mixture if necessary. Dialamine A palatable orange flavoured powder containing 30% essential amino acids and carbohydrate which when mixed with water provides a pleasant tasting drink. Dialamine may be used for oral and tube feeding where essential amino acid supplementation is required. Dialamine may be used for conditions requiring a controlled nitrogen intake. Age Range Pack Size 1 year to adult 200g securitainer PRECAUTIONS Only intended for use in conditions requiring a controlled nitrogen intake Use under medical supervision Not suitable as a sole source of nutrition Not for parenteral use Essential Amino Acid Mix A powdered mix of essential amino acids for use in the dietary management of urea cycle disorders.

78. Canadian Directory Of Genetic Support Groups urea cycle disorders. National Urea Cycle Foundation National Coalition for PKU Allied Disorders. Page revised March 9, 2004 http://www.lhsc.on.ca/programs/medgenet/urea_cyc.htm

Index by support group Canadian Directory of Genetic Support Groups Urea Cycle Disorders National Urea Cycle Foundation Page revised: March 9, 2004 Maintained by: Janice Little Index by disease/ disorder Return to Programs and Services Questions? Comments? Contact Janice Little London Health Sciences Centre . Please read our

79. Urea Cycle Enzymes (from Metabolic Disease) --  Encyclopædia Britannica Disorders of aminoacid metabolism Urea cycle enzymes. ArtFigure 5 Enzyme defects in urea cycle disorders. Figure 5 Enzyme defects in urea cycle http://www.britannica.com/eb/article-52045

Home Browse Newsletters Store ... Subscribe Already a member? Log in Content Related to this Topic This Article's Table of Contents Introduction General considerations The derivation of specific metabolic disorders Disorders of carbohydrate metabolism Glycogen storage diseases Galactosemia Fructose disorders Pyruvate disorders ... Mucopolysaccharidoses Disorders of lipid metabolism Blood lipid disorders Lipid oxidative disorders Tissue lipid disorders Disorders of amino-acid metabolism ... Phenylalanine and tyrosine Urea cycle enzymes Branched chain amino acids Disorders of amino-acid transport Disorders of porphyrin metabolism Disorders of purine and pyrimidine metabolism ... Print this Table of Contents Shopping Price: USD $1495 Revised, updated, and still unrivaled. The Official Scrabble Players Dictionary (Hardcover) Price: USD $15.95 The Scrabble player's bible on sale! Save 30%. Merriam-Webster's Collegiate Dictionary Price: USD $19.95 Save big on America's best-selling dictionary. Discounted 38%!

80. ODH Expands Newborn Screening To Add Five New Disorders irritability, poor feeding, poor muscle tone and jaundice. urea cycle disorders symptoms may also include vomiting, lethargy, seizures and coma. http://www.odh.ohio.gov/news/newbornScreening2002.aspx

For immediate release January 31, 2002 ODH expands newborn screening to add five new disorder COLUMBUS - As of today, Ohio newborns will be screened for 12 disorders before leaving the hospital. The Ohio Department of Health (ODH) has added five new disorders to the seven previously covered in the state's newborn screening panel. "Finding these problems early is key," said ODH Director J. Nick Baird, M.D. "Identifying these disorders in the infant's first few days of life, when they are treatable, can help prevent serious complications." By adding the five disorders, ODH is following the recommendations of the Ohio Newborn Screening Advisory Committee, comprised of experts in the fields of pediatric endocrinology, metabolism, genetics and other health specialties. Newborn screening has been recognized as one of the 50 most successful public health programs of the 20th century, Baird said. ODH has had a newborn screening program since 1965. The new tests screen for three organic acidemia disorders and two urea cycle disorders. The organic acidemia disorders include isovaleric acidemia, methylmalonic acidemia and propionic acidemia. The urea cycle disorders are citrullinemia and argininosuccinic aciduria. Organic acidemia disorders are inherited metabolic disorders that can lead to the accumulation of organic acids in body fluids such as blood or urine. These disorders may produce disturbances in the acid-base balance and metabolism of the body. They can cause intoxication-like symptoms such as vomiting, dehydration and coma. The symptoms can be diminished by restricting protein in the diet and, in some cases, supplementing with vitamins and carnitine.

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