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Urea Cycle Disorders: more detail

Urea cycle disorders: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Julianne Remington, 2005
Congenital disorders of the urea cycle and ammonia detoxication (Monographs in paediatrics) by Jean Pierre Colombo, 1971
The Pediatrician's Guide to Ornithine Transcarbamylase Deficiency . . . and other Urea Cycle Disorders (The National Organization for Rare Disorders, NORD Guides for Physicians #2) by The National Organization for Rare Disorders, 1999
Inherited disorders of the urea cycle by George K Summer, 1973
CONGENIAL DISORDERS OF THE UREA CYCLE AND AMMONIA DETOXICATION( Monographs in Pediatrics) by J.P. Colombo, 1971
Congenital Disorders of the Urea Cycle and Ammonia Detoxication Volume I
Congenital Disorders of the Urea Cycle and Ammonia Detoxication Volume I by Jean-Pierre Colombo, 1971-01-01
Urea Cycle Diseases (Advances in Experimental Medicine & Biology)

lists with details

Ammonaps
This action is useful in patients with urea cycle disorders. In urea cycle disorders, the conversion to urea cannot take place and ammonia accumulates.
http://www.tiscali.co.uk/lifestyle/healthfitness/health_advice/netdoctor/archive

Extractions: Sodium phenylbutyrate is a prodrug that is rapidly converted to phenylacetate in the body. Phenylacetate acts by combining with a naturally-occuring amino-acid called glutamine to form phenylacetylglutamine. This is then removed from the body by the kidneys. This action is useful in patients with urea cycle disorders. Urea cycle disorders are caused by inborn deficiencies of certain enzymes involved in the metabolism of amino-acids. Normally, when amino-acids are broken down, ammonia is produced which is converted into urea and removed from the body by the kidneys. In urea cycle disorders, the conversion to urea cannot take place and ammonia accumulates. This can seriously disturb brain function, producing the condition known as hyperammonaemic encephalopathy. This medicine provides an alternative method for the removal of excess amino-acids and ammonia from the bloodstream. It reduces raised blood ammonia and glutamine (an amino-acid) levels in patients with urea cycle disorders. It is used in conjunction with a controlled protein intake.
National PKU News: Reimbursement For Medical Foods For Inborn Errors Of Metaboli
treatment of amino acid and urea cycle disorders must be carefully acid and urea cycle disorders are medical expenses that should be reimbursed.
http://web47.radiant.net/~pkunews/rights/AAPC.htm

Extractions: Statement by the American Academy of Pediatrics Committee on Nutrition This is a statement from the American Academy of Pediatrics, supporting reimbursement for medical foods (formulas) used for treatment of inborn errors of metabolism. Potential uses of this statement: advocating for legislation and/or convincing insurance carriers to cover medical foods. The recommendations in this policy statement do not indicate an exclusive course of treatment or procedure to be followed. Variations, taking into account individual circumstances, may be appropriate. Inborn errors of amino acid metabolism such as phenylketonuria, maternal phenylketonuria, maple syrup urine disease, homocystinuria, methylmalonic acidemia, propionic acidemia, isovaleric acidemia and other disorders of leucine metabolism, glutaric acidemia type I and tyrosinemia types I and II, and urea cycle disorders are rare diseases that are treatable by diet. Treatment might include the restriction of one or more amino acids, the restriction of total nitrogen, or the supplementation of specific substances. Untreated, these diseases culminate in severe mental retardation or death. Once diagnosis is confirmed, treatment of amino acid and urea cycle disorders must be carefully monitored by a physician with expertise in metabolic diseases. Special medical foods, commercially available, are indispensable for the active, ongoing treatment of diagnosed amino acid and urea cycle disorders. Special medical foods would, if used as the sole dietary source, represent a hazard to affected and healthy children. US Public Law (Publ L) 100-290 defines the term medical food as ". . . a food which is formulated to be consumed or administered enterally under the supervision of a physician and which is intended for the specific dietary management of a disease or condition for which distinctive nutritional requirements, based on recognized scientific principles, are established by medical evaluation." (Ref. 1)
ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/
urea cycle disorders Information, medical links and a message board. National urea cycle disorders Foundation - Information about the organization as
http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

Extractions: Text Size A A A Front Page ... Genetic Disorders : Urea Cycle Can Ancient Rocks Yield Clues About Catastrophes Like Hurricane Katrina? (September 8, 2005) full story Climate Change Will Affect Carbon Sequestration In Oceans, Model Shows (September 8, 2005) full story K-State Researchers Study Insects' Immune System (September 5, 2005) full story Cancer Drug Target Chk1 May Also Be Source Of Drug Resistance (September 4, 2005) Molecular Cell reports that a cell-cycle checkpoint protein, known to be activated by an important class of anticancer drugs, may play crucial roles in both the hampering of therapeutic actions and aiding cancer cells to "recover" and start dividing again after treatment with these drugs. The study is expected to help academic researchers and biotechnology and pharmaceutical companies design drugs that combat cancer using this checkpoint protein, but with fewer side effects. full story Chemicals Entering Coastal Waters: Freshwater And Saltwater Interactions In Coastal Groundwater (September 2, 2005)
Urea Cycle Disorder
National Urea Cycle Disorder Foundation linking families, urea cycle disorders - Information about urea cycle disorders-a frequently overlooked,
http://www.health-nexus.org/urea_cycle_disorder.htm

Extractions: The #1 Health information site Health-Nexus.Com Health-Nexus.Net 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 What is a Urea Cycle Disorder?
Fathers Network Loving Sarah
A urea cycle disorder is one of six genetic disorders causing an enzyme The effects of a urea cycle disorder usually do not appear until the first 24
http://www.fathersnetwork.org/589.html

Extractions: Loving Sarah David Parsons graduated from Yale University with a BA in English in 1968 and Yale and an MFES in environmental studies in 1971. He lives in Barrington, Illinois with his wife, Pamela, and children, daughter Sarah and Michael, 26, Melissa, 22, and Sean, 13, in Barrington, Illinois. Active in the real estate profession for 22 years, he is president of a land development company and a construction company. After we dropped Sarah off, I sat in the car and I cried. Actually I sobbed. All of the frustration, anxiety, fear and love went through my body in one spasm after another; I remember all the sleepless nights, doctors, hospitals, special diets, vomit and diarrhea. Then there were all the words I could hardly spell hyperammonemia, urea cycle deficiency, ornithine transcarbamylase. After 20 years of living at home, Sarah was now enrolled in a residential school. I missed her already, and as tears poured down my face and old emotions swirled around me, a whole new set of fears jumped in who would watch and protect her, check her diet, hold her hand, help her dress in the morning, and kiss her goodnight? On the familiar drive to pick Sarah up for a weekend visit home, I turn off the radio and roll down the windows on a beautiful September afternoon. I want to write about my life with Sarah, but how do I write about something that is as much a part of me as breathing? Im still reflecting on our life together as I pull into the same parking lot where I say crying five years earlier. I turn off the engine, settle back and let the memories wash over me. I dont have to go looking for Sarah I know I will hear her long before I see her...
Health/Conditions And Diseases/Genetic Disorders/Urea Cycle -- The Doctors Loung
Ask the doctor. Get free medical consultation and advice. Choose a medical specialist and post your question! Doctors in all medical fields are available.
http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Genetic_Disor
Final Diagnosis -- Case 335
These disorders cause hyperammonemia by inhibiting urea cycle enzymes (2). Causes of hyperammonemia that are not genetic include severe dehydration and
http://path.upmc.edu/cases/case335/dx.html

Extractions: FINAL DIAGNOSIS: PARTIAL ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY Pathophysiology: OTC deficiency is the most common of the urea cycle disorders (UCD).(1). The urea cycle converts nitrogen from peripheral (muscle) and dietary sources into urea that is water soluble and can be excreted. Figure 2 (2) is a simplified schematic representation of the urea cycle showing how OTC deficiency leads to the impaired condensation of carbamyl phosphate and ornithine to form citrulline. This impairment leads to reduced ammonia incorporation which, in turn, causes symptomatic hyperammonemia and excess of both substrates for the reaction. Under normal circumstances urea cycle occurs in hepatic mitochondria. However when excessive carbamyl phosphate it finds its way into the cytosol where it functions as substrate for the carbamoyl phosphate synthetase (CPS) II reaction. This results in orotic acid, which is a normal intermediate in the very tightly regulated pyrimidine biosynthesis. In OTC deficiency neither conversion of CPS to orotate nor hepatic leakage of ornithine can prevent the rapid development of hyperammonemia (1). The accumulation of ammonia and other metabolites causes. cerebral edema. OTC is encoded for on the OTC gene located on the X chromosome at band Xp21.1. The nature of mutation in the OTC gene is highly variable with more than 150 mutations, most of which are single-base substitutions, having been reported (3). Most mutations are inherited with a significant rate of spontaneous mutation.
► Hereditary Urea Cycle Abnormality
A medical encycopedia article on the topic Hereditary urea cycle abnormality. As a result of these disorders, ammonia levels rise as proteins aren t
http://www.umm.edu/ency/article/000372.htm

Extractions: Toggle English Spanish Overview Symptoms Treatment Prevention Definition: 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: Causes, incidence, and risk factors: As a group, these disorders occur in 1 in 30,000 newborns. Ornithine transcarbamylase deficiency is the most common. All are genetic diseases associated with lack of a protein/enzyme activity in the urea cycle. Ornithine transcarbamylase deficiency is an X-linked recessive disorder (which will occur in all males who inherit the gene because they lack another X which could make up for it). Females are rarely affected those who are have milder symptoms and later onset.
Karger Publishers
Congenital disorders of the urea cycle and Ammonia Detoxication Congenital disorders of the urea cycle and Ammonia Detoxication
http://content.karger.com/ProdukteDB/produkte.asp?Aktion=showproducts&ProduktNr=
What Is A Urea Cycle Disorder?
Health care centre, teaching and research hospital Vancouver Hospital and Health Sciences Centre in British Columbia Canada.
http://www.vanhosp.bc.ca/html/wellness_amdc_findout_urea_whatis.html

Extractions: 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: 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?
Urea Cycle Disorder (UCD), Cincinnati Children's Hospital Medical Center
A urea cycle disorder (UCD) is an inherited disease caused by the lack of an enzyme needed to break down ammonia in the body.
http://www.cincinnatichildrens.org/svc/alpha/l/liver/diseases/urea-cycle.htm

Extractions: Explanation Causes Symptoms l Diagnosis l Treatment l Prognosis 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.
Urea Cycle Disorder
National urea cycle Disorder Foundation linking families, friends and professionals who are dedicated to the identification, treatment and cure.
http://www.ability.org.uk/Urea_Cycle_Disorder.html

Extractions: "see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Urea Cycle Disorder National Urea Cycle Disorder Foundation - linking families, friends and professionals who are dedicated to the identification, treatment and cure. Urea Cycle Disorders Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments
TriButyrate® And Urea Cycle Disorder Research
INBORN ERRORS OF urea SYNTHESIS (urea cycle DISORDER). triButyrate® was originally developed in the mid 1980 s by triple crown america, inc., at the request
http://www.tributyrate.com/html/urea_cycle_disorder.php

Extractions: Inborn errors of Urea Synthesis are rare and belong to the larger group of disorders of amino acid metabolism, which are genetically determined and caused by enzyme defects. The most well known disorder in the larger group is phenylketonuria (PKU), characterized by an accumulation of the amino acid phenylalanine, which frequently results in mental and psychomotor retardation, if not treated.
Ammonul Information From Drugs.com
Generic Name sodium phenylacetate 10% and sodium benzoate 10% Date of Approval February 17, 2005 Company Medicis Treatment for urea cycle Disorder
http://www.drugs.com/ammonul.html

Extractions: Some commonly used brand names are: In the U.S. Category Description Sodium benzoate and sodium phenylacetate (SOE-dee-um BEN-zo-ate and SOE-dee-um fen-ill-AH-seh-tate) combination is used to treat a condition caused by too much ammonia in the blood (hyperammonemia). This medicine works by causing less ammonia to be produced by the body. Ammonia is formed from the breakdown of protein in the body. If the ammonia cannot be removed by the body, then a build up may cause serious unwanted effects. Ammonul is available only with your doctor's prescription in the following dosage form: Parenteral Injection (U.S.)
Expanded Newborn Screening Using Tandem Mass Spectromety
Glossary , urea cycle disorder (UCD). These are inherited conditions that cause ammonia to build up in the body. Ammonia is a harmful waste product made
http://www.newbornscreening.info/GlossaryTerms/ureaCycleDisorder.html
Search Result For "Premenstrual Dysphoric Disorder"
urea cycle Disorder Understanding the Basics What is a urea cycle Disorder?; urea cycle Disorder (UCD); What is a urea cycle Disorder?
http://www.noah-health.org/search/results.php?lang=1&keyword=Premenstrual Dyspho
Fathers Network Loving Sarah
The condition is classified as a urea cycle disorder. By the time Sarahs condition One in every 25000 children is affected by a urea cycle disorder.
http://www.fathersnetwork.org/page.php?page=589&version=print
Autistic-like Findings Associated With A Urea Cycle Disorder In A 4-year-old Gir
During this process, a urea cycle disorder was also identified, namely, ornithine transcarbamylase deficiency and arginase deficiency, because of the high
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=551172
Brief Reports
Isolated significant hyperammonemia suggested a urea cycle disorder in two Patients 8 and 9. Patient 10 had encephalopathy, ketoacidosis with hypoglycemia
http://www.indianpediatrics.net/jan2000/breif1.htm

Extractions: Home Past Issue About IP About IAP ... Subscription Brief Reports Indian Pediatrics 2000;37: 63-69 An Approach to Neurometabolic Disorders by a Simple Metabolic Screen Sheffali Gulati, Meera Vaswani*, Veena Kalra, Madhulika Kabra and Manjeet Kaur From the Departments of Pediatrics and the *Division of Biochemistry, Department of Psychiatry, All India Institute of Medical Sciences, New Delhi 110 029, India. Revision accepted: August 13, 1999 Global surveys conservatively estimate the occurrence of inherited metabolic disorders in the range of three to four per thousand live born infants(1). In the multicentric Indian Council of Medical Research (ICMR) study, 4.9% of the genetic causes of mental retardation were due to metabolic disorders(2). The World Health Organization (WHO) estimated aminoacid disorders to account for approximately 10% of profoundly retarded children. Screening of mentally retarded children in India revealed that 0.5% to 2.4% of children had aminoacid disorders(3,4). Early diagnosis of metabolic disorders is desirable to reduce morbidity in cases where specific therapy is available. The spectrum of genetic counseling and prenatal diagnosis is rapidly expanding. Gene therapy is also on the anvil(5,6). Developing countries still suffer from paucity of facilities to investigate such patients.
Disease Descriptions
To download this list of the disorders we advocate Click here. These disorders do not currently fit the Save Babies Through Screening profile,
http://www.savebabies.org/diseasedescriptions.htm

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