Geometry.Net - Health_Conditions: Urea Cycle Disorders


Home - Health_Conditions - Urea Cycle Disorders

e99.com Bookstore

Images

Newsgroups

1-20 of 89 1 | 2 | 3 | 4 | 5 | Next 20

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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

National Urea Cycle Disorders Foundation
Information about the organization as well as the disease. Family support, membership, newborn screening
http://www.nucdf.org/
"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.
Urea Cycle Disorders / Family Village
The National urea cycle disorders Foundation is a nonprofit organization dedicated to the identification, treatment and cure of urea cycle disorders. Our organization was formed
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. What is a Urea Cycle Disorder?
What Is A Urea Cycle Disorder?
urea cycle disorders are included in the category of inborn errors of metabolism. There is no cure. What are the 5 urea cycle disorders?
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.
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 For more information on urea cycle disorders, go to our links.
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?
UREA CYCLE DISORDERS: Contact A Family - For Families With Disabled Children: In
urea cycle disorders. home. more about us. in your area. conditions information. index of conditions. about the directory. internet medical info. useful addresses. patterns of inheritance. dictionaries glossaries The most common of the urea cycle disorders is OTC deficiency
http://www.cafamily.org.uk/Direct/u14.html

Extractions: helpful? yes no 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: 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.
Urea Cycle Disorders
urea cycle disorders. National urea cycle disorders Foundation. 4841 Hill Street Includes numerousadditional resources. UCD (urea cycle disorders) Support Network
http://www.kumc.edu/gec/support/ureacycl.html
Urea Cycle Disorders
Internet links on urea cycle disorders. Elsewhere on the Web. urea cycle disorders. I am your Guide, From Mary Kugler, Your Guide to Rare / Orphan Diseases.
http://rarediseases.about.com/cs/ureacycledisord/a/041203.htm

Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Types of Diseases Metabolic Disorders ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Email to a friend Print this page Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. Suggested Reading Internet links on urea cycle disorders Elsewhere on the Web National Urea Cycle Disorders Foundation Clinical Trial-Treatment of Urea Cycle The Biotech Death of Jesse Gelsinger Most Popular ALD and Lorenzo's Oil The Elephant Man's Bones Reveal Mystery Prune Belly (Eagle-Barrett) Syndrome Progeria Syndromes ... Mad Cow Disease and Humans What's Hot Autoimmune Kidney Disease Tourette Syndrome Christmas Disease Bugs, PANDAS, and Tics ... Dystonia and Botox Injections From Mary Kugler
Urea Cycle Disorders
Urea Cycle Defects. Hyperammonemias. Carbamoyl Phosphate Synthetase I (CPSI) Deficiency. Ornithine Transcarbamylase (OTC) Deficiency. N-Acetylglutamate Synthetase Deficiency. Argininosuccinic Aciduria - Argininosuccinate Lyase Deficiency
http://web.indstate.edu/thcme/mwking/ureacycledisorders.html
ORPHAN EUROPE - Urea Cycle Disorders
What are urea cycle disorders ? urea cycle disorders (UCD) belong to the group of disorders known as inborn errors of metabolism.
http://www.orphan-europe.com/harnstoffzyklus_gb.html

Extractions: 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.
Urea Cycle Disorders
An Overview. The urea cycle has two functions. is less clearly established. The urea cycle disorders are inherited as autosomal recessive traits clinical presentation of the urea cycle disorders is related to the accumulation
http://www.meadjohnson.com/metabolics/ureacycledisorders.html

Extractions: The urea cycle has two functions. First, it serves to convert dietary nitrogen not used for net biosynthesis purposes into urea, thereby preventing the accumulation of ammonium and glutamine, both of which are responsible for encephalopathy. Second, it contains many of the reactions for the de novo biosyntheses and degradation of arginine. The urea cycle includes five enzymes that catalyze the formation of urea and intermediate substrates and one enzyme that catalyzes the formation of an allosteric regulator. Five well-described diseases (each with genetic and phenotypic variability) have been described: deficiencies of carbamyl phosphate synthetase (CPSD), ornithine transcarbamylase (OTCD), argininosuccinic acid synthetase (ASD), argininosuccinase (ALD) and arginase (ARD). The late-onset form of OTCD (males and females) comprises the largest group of patients. In addition, a few patients have been described as having N-acetylglutamate synthetase deficiency (NAGSD), N-acetylglutamate being an allosteric regulator of CPS synthesis; the clinical and biochemical phenotype of NAGSD is unclear. Because the physiologic defect resides in the inability to synthesize urea, the principal waste nitrogen product, therapeutic strategy is directed at both reducing the requirement for ureagenesis and exploiting pathways for the synthesis and excretion of other waste nitrogen products that may serve as substitutes for urea.
What Is A Urea Cycle Disorder?
What is a Urea Cycle Disorder? There are six different urea cycle enzymes in the body, and therefore five different urea cycle disorders
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?
How Are Urea Cycle Disorders Treated?
How are urea cycle disorders treated? Diet. Some people with urea cycle disorders need to take medication to help rid their bodies of excess ammonia.
http://www.vanhosp.bc.ca/html/wellness_amdc_findout_urea_howare.html

Extractions: How are Urea Cycle disorders treated? Diet Knowing how the urea cycle works will help you to understand the treatment better. The first part of treatment is reducing protein in the diet . If less protein is taken in, there is less ammonia for the urea cycle to remove. Protein in the diet is lowered by avoiding protein-rich foods like meat and milk. Examples of low protein foods are fruits, vegetables and starches. These foods provide calories without loading the body with protein. Calories are a very important part of the diet. The body can use them for fuel without breaking down its own reserves. If the body does not have adequate fuel in the form of calories, it will actually begin to break down muscle to provide energy. Muscle is protein and will increase ammonia levels in the same way as eating protein will. The metabolic dietician works with people to make adjustments to diet to ensure that it is providing adequate calories and nutrients. Medications Some people with urea cycle disorders need to take medication to help rid their bodies of excess ammonia.
Urea Cycle Disorders
urea cycle disorders National urea cycle disorders Foundation National network. Dues $35. WRITE National urea cycle disorders Foundation 4841 Hill St.
http://my.webmd.com/hw/health_guide_atoz/shc29ure.asp

Extractions: Links families, friends and professionals who are dedicated to the identification, treatment and cure of urea cycle disorders, a genetic disorder causing an enzyme deficiency in the urea cycle. Networks families together for support, educates professionals and public, and supports research. Phone support, literature, newsletter. Dues $35.
Citrullinemia
The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and
http://my.webmd.com/hw/raising_a_family/nord310.asp

Extractions: Citrullinemia is a rare inherited disorder caused by deficiency or lack of the enzyme argininosuccinate synthetase (ASS). Argininosuccinate synthetase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of this enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affected infants may experience vomiting, refusal to eat, progressive lethargy, and coma. Citrullinemia is inherited as an autosomal recessive trait. The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine. Nitrogen is a waste product of protein metabolism. Failure to break down nitrogen results in the abnormal accumulation of nitrogen, in the form of ammonia, in the blood.
Urea Cycle Disorder
Find it Here. Urea Cycle Disorder. urea cycle disorders Information about urea cycle disorders-a frequently overlooked, fatal illness affecting children.
http://www.health-nexus.com/urea_cycle_disorder.htm

Extractions: Health-Nexus.Net Health-Nexus.Org The #1 Health information site 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?
CCHS Clinical Digital Library
Clinical Resources by Topic Metabolic Disorders. urea cycle disorders Clinical Resources.
http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/aminoacid/urea.htm

Extractions: Clinical Resources by Topic: Metabolic Disorders Urea Cycle Disorders Clinical Resources Pediatrics Genetics Clinical Guidelines News ... Miscellaneous Resources See also: Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents Health Sciences Library subscription INFO Goldman: Cecil Textbook of Medicine 21st Ed.-2000 (MD Consult):
CCHS Clinical Digital Library
urea cycle disorders Patient/Family Resources. Miscellaneous urea cycle disorders Patient/Family Resources Healthfinder (US DHHS) Homepage
http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/aminoacid/urea.htm

Extractions: Patient/Family Resources by Topic: Metabolic Disorders Urea Cycle Disorders Patient/Family Resources Spanish Miscellaneous See also: MEDLINE plus Medical Encyclopedia: Table of contents Spanish Miscellaneous Urea Cycle Disorders Patient/Family Resources National Library of Medicine MEDLINE plus Health Topics: Index YAHOO - Health:Diseases and Conditions:Metabolic Diseases
Urea Cycle Disorder (UCD), Cincinnati Children's Hospital Medical Center
These urea cycle disorders are named based on the initials of the missing enzyme. They are There currently is no cure for urea cycle disorders.
http://www.cincinnatichildrens.org/svc/prog/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 Disorders
Urea Cycle Defects.
http://www.indstate.edu/thcme/mwking/ureacycledisorders.html

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

1-20 of 89 1 | 2 | 3 | 4 | 5 | Next 20