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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

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

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
   
   Extractions: 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 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. National Urea Cycle Disorders Foundation
   National urea cycle disorders Foundation  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. What Is A Urea Cycle Disorder?
   In urea cycle disorders, the nitrogen accumulates in the form of ammonia, urea cycle disorders are included in the category of inborn errors of  
   http://www.nucdf.org/whatis.htm
   
   Extractions: 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. 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. What Is A Urea Cycle Disorder?
   What are the 5 urea cycle disorders? There are six disorders of the urea cycle. Each is referred to by the initials of the missing enzyme.  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Urea Cycle Disorders
   A site dedicated to raising awareness of urea cycle disordersa fatal, frequently overlooked disorder. Contains info on UCD's, and ordering info for  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Urea Cycle Disorders
   Information about urea cycle disordersa frequently overlooked, fatal illness affecting children.  
   http://www.2endure.com/mysterious illness.html
   
   Extractions: 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?

8. Urea Cycle Disorders
   Urea Cycle Defects Hyperammonemias. Carbamoyl Phosphate Synthetase I (CPSI) Deficiency. Ornithine Transcarbamylase (OTC) Deficiency  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Nitrogen Metabolism And The Urea Cycle
   These disorders are referred to as urea cycle disorders or UCDs. More information on the individual UCDs can be found in the Inborn Errors in Metabolism  
   http://web.indstate.edu/thcme/mwking/nitrogen-metabolism.html
   
   Extractions: Return to Medical Biochemistry Page Introduction Humans are totally dependent on other organisms for converting atmospheric nitrogen into forms available to the body. Nitrogen fixation is carried out by bacterial nitrogensases forming reduced nitrogen, NH which can then be used by all organisms to form amino acids. Overview of the flow of nitrogen in the biosphere. Nitrogen, nitrites and nitrates are acted upon by bacteria (nitrogen fixation) and plants and we assimilate these compounds as protein in our diets. Ammonia incorporation in animals occurs through the actions of glutamate dehydrogenase and glutamine synthase. Glutamate plays the central role in mammalian nitrogen flow, serving as both a nitrogen donor and nitrogen acceptor. Reduced nitrogen enters the human body as dietary free amino acids, protein, and the ammonia produced by intestinal tract bacteria. A pair of principal enzymes, glutamate dehydrogenase and glutamine synthatase, are found in all organisms and effect the conversion of ammonia into the amino acids glutamate and glutamine , respectively. Amino and amide groups from these 2 substances are freely transferred to other carbon skeletons by

10. Nitrogen Metabolism And The Urea Cycle
    enzymes of the urea cycle, including Nacetylglutamate synthase, have been identified. These disorders are referred to as urea cycle disorders  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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

12. Urea Cycle Disorders / Family Village
    urea cycle disorders  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Urea Cycle Disorders / Family Village
    The National urea cycle disorders Foundation is a nonprofit organization dedicated to the Frequently Asked Questions about urea cycle disorders  
    http://www.familyvillage.wisc.edu/lib_urea.htm
    
    Extractions: 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. Urea Cycle Disorders

14. Www.truekids.org
    Transplantation impacts various individuals and urea cycle disorders differently. options  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Welcome To UCDKids Net!
    National urea cycle disorders Foundation  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. How Do People Get Urea Cycle Disorders?
    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_howdo.html
    
    Extractions: How do People Get Urea Cycle Disorders? Urea cycle disorders are genetic. This means that the person has the disorder from the time they are conceived. At conception, a baby receives two sets of genetic material, one from the mother and one from the father. This genetic material, called DNA , acts as a recipe for the baby's development. DNA includes information about the baby's eye and hair colour, sex, and even whether the baby will be right or left-handed. DNA comes in units called genes . Each pair of genes gives directions to a certain part of the body. Genes also give instructions on how the body breaks down protein. If the gene gives the wrong instructions, protein will not be broken down properly in the body. The first four urea cycle disorders on the list above are caused by getting two copies of the faulty gene, one from the mother and one from the father. If the child inherits only one copy of the gene, they are a

17. Clinical Trial Phase II Study Of Sodium Phenylbutyrate, Sodium
    Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for urea cycle disorders  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. The Urea Cycle Disorders Consortium
    The urea cycle disorders Consortium exists to bring together patients and physicians for the sake of urea cycle disorders research. Disorders we study are  
    http://rdcrn.epi.usf.edu/ucdc/
    
    Extractions: Take Action. Learn more about joining our registry... We cannot make promises or guarantees about what the future may hold, but one thing is for certain, research cannot move forward with out your help. The future of Urea Cycles research begins here. Every active role a patient takes may possibly play a part in discovering new groundbreaking research and finding new treatments. 2005 NUCDF Annual Family Conference

19. Newborn Screening Program - Urea Cycle Disorders
    urea cycle disorders  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. UCDC For Patients - Learn More
    Learn More Information for Patients about rare urea cycle disorders. The urea cycle disorders Consortium exists to bring together patients and  
    http://rdcrn.epi.usf.edu/ucdc/learnmore/definitions.htm
    
    Extractions: Disorder Definitions Useful Links ... UCDC Contact Information Many of the urea cycle disorders have similar symptoms because they affect the body in the same way. Therefore, descriptions of an individual disorder and the method used to diagnose the disorder may be similar or identical to descriptions of other urea cycle disorders. N-Acetylglutamate Synthetase Deficiency (NAGS) N-acetylglutamate is one of the most severe disorders of the urea cycle. NAGS makes a molecule that is necessary for another enzyme in the urea cycle to do its job (this is called a cofactor). Patients with severe complete NAGS deficiency rapidly develop high ammonia levels in the blood, ( hyperammonemia ), soon after birth. Patients who are successfully rescued from the crisis of high ammonia levels in the blood are at risk for repeated bouts of hyperammonemia. A new experimental treatment for this disease is currently under investigation through the Urea Cycle Disorders Consortium. Patients with partial NAGS deficiency (milder type of NAGS) can have symptoms appear at almost any time of life with a stressful triggering event such as an infection or a viral illness.

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