1. NORD - National Organization For Rare Disorders, Inc. tyrosinemia, Hereditary. View Cart/Checkout. Copyright 1987, 1988, 1990, 1992, 1994, 1995, 1996, 1999, 2000, 2002, 2003 Synonyms of tyrosinemia, Hereditary http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tyrosinemia,

2. Tyrosinemia Reaching out and connecting tyrosinemia families throughout the world .. Purpose To allow tyrosinemia, tyrosinemia@groups.msn.com, http://groups.msn.com/tyrosinemia

var nEditorialCatId = 96; MSN Home My MSN Hotmail Shopping ... Money Web Search: document.write(''); Groups Groups Home My Groups Language ... Help tyrosinemia tyrosinemia@groups.msn.com What's New Join Now Message Board Chat room webpage ... Recommend This Group to a Friend Welcome! This is the place for all people interested in connecting with others with Tyrosinemia. Tyrosinemia is an inborn error of metabolism in which the body can not effectively break down the amino acid tyrosine. Treatment varies depending on the specific type. A low protein diet may be required. The information provided is offered for general informational and educational purposes only. It is not offered as and does not constitute medical advice. In no way are any of the materials presented meant to be a substitute for professional medical care or attention by a qualified practitioner, nor should they be construed as such. Contact your physician if there are any concerns or questions. Click Here to Search This Site FastCounter by bCentral updated 1/2/2003 New Messages View all Hi, Check out Annalee's website. http://www.babyfriends.nu/medlem/EliseL/ I have added it to the ty...

3. EMedicine - Tyrosinemia : Article By Karl S Roth, MD tyrosinemia Elevated blood tyrosine levels are present in several clinical entities. The term tyrosinemia was first given to a clinical entity based on observations (eg, elevated blood tyrosine http://www.emedicine.com/ped/topic2339.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Tyrosinemia Last Updated: June 20, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: hereditary infantile tyrosinemia, Richner-Hanhart syndrome, transient tyrosinemia of the newborn, TTN, tyrosinemia I, tyrosinemia II, tyrosinemia III AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Karl S Roth, MD , Chair, Professor, Department of Pediatrics, Creighton University School of Medicine Karl S Roth, MD, is a member of the following medical societies: Alpha Omega Alpha American Academy of Pediatrics American Association for the Advancement of Science American College of Nutrition ... Society for Pediatric Research , and Southern Society for Pediatric Research Editor(s): Erawati Bawle, MD, FAAP, FACMG , Director, Division of Genetic and Metabolic Diseases, Children's Hospital of Michigan; Clinical Professor, Department of Pediatrics, Wayne State University School of Medicine;

4. Tyrosinemia Management tyrosinemia Background tyrosinemiaI is a rare but devastating metabolic disorder that presents as severe liver disease at less than six months of age. http://www.meadjohnson.com/metabolics/tyrosinemia.html

Tyrosinemia: Background C. Ronald Scott, M.D. University of Washington School of Medicine Seattle, WA Tyrosinemia-I is a rare but devastating metabolic disorder that presents as severe liver disease at less than six months of age. If tyrosinemia-I is unrecognized and untreated, affected infants will die from liver failure within a few weeks or months following the onset of symptoms. A more chronic form of the disorder may lead to progressive, cirrhotic liver disease and a Fanconi-like renal syndrome, with loss of phosphate in the urine, rickets, and growth failure. Young children and older patients also may have repetitive bouts of neurologic crises. Among patients who do not die from their symptoms in early childhood, a chronic form of the disorder eventually leads to liver failure or hepatocarcinoma and death, usually before 10 years of age. Tyrosinemia is inherited as an autosomal recessive disorder. In the general population of the United States and Europe, the incidence is estimated to be 1 in 100,000 to 120,000 live births. Incidence is significantly higher in the province of Quebec, Canada, and in Norway and Finland. The highest incidence occurs in the Saguenay-Lac Saint-Jean region of Quebec, where 1 in 1,846 live births results in an affected child. Based on newborn screening, it has been estimated that 1 person in 25 within the Saguenay­Lac Saint-Jean population carries a common mutation responsible for tyrosinemia. In Norway and Finland, incidence may be as high as 1 in 60,000 live births.

5. TYROSINEMIA Hereditary tyrosinemia is a genetic inborn error of metabolism associated with severe liver disease in infancy. The disease is inherited in an autosomal recessive fashion which means that both parents must be carriers of the gene for the disease. have a more chronic form of tyrosinemia with a gradual onset and less http://www.gastro.com/html/liverdisease/tyrosinemia.shtml

Hereditary tyrosinemia is a genetic inborn error of metabolism associated with severe liver disease in infancy. The disease is inherited in an autosomal recessive fashion which means that both parents must be carriers of the gene for the disease. In such families, there is a one out of four risk that pregnancies will produce an affected infant. The clinical features of the disease tend to fall into two categories. In the so-called acute form of the disease, abnormalities appear in the first month of life. Babies may show poor weight gain, enlarged liver and spleen, distended abdomen, swelling of the legs and increased tendency to bleeding, particularly nose bleeds. Jaundice may or may not be prominent. Despite vigorous therapy, death from hepatic failure frequently occurs between three and nine months of age. Children with this form of disease are excellent candidates for liver transplantation. Some children have a more chronic form of tyrosinemia with a gradual onset and less severe clinical features. In these, enlargement of the liver and spleen are prominent, the abdomen is distended with fluid, weight gain may be poor, and vomiting and diarrhea occur frequently. Affected patients usually develop cirrhosis and its complications. In older patients, there is an increased risk of liver cancer. These children also require liver transplantation.

6. Disease Category Listing (207): Tyrosinemia CenterWatch Listing of Clinical Research Trials for tyrosinemia Clinical Trials tyrosinemia. There are no studies currently listed in this category on the CenterWatch web site. http://www.centerwatch.com/studies/cat207.htm

Clinical Trials: Tyrosinemia There are no studies currently listed in this category on the CenterWatch web site. Back to Clinical Trials by Medical Areas Research centers specializing in this illness area Additional resources ... in this illness area This site is run by CenterWatch, a publishing company that focuses on the clinical trials industry. The information provided in this service is designed to help patients find clinical trials that may be of interest to them, and to help patients contact the centers conducting the research. CenterWatch is neither promoting this research nor involved in conducting any of these trials. Trial listing updated: June 2, 2004 at 2:24:23 PM Patient Resources: [ Trial Listing Notification Services Drug Directories About Clinical Research ... Patient Bookstore Professional Resources: [ Research Center Profiles Industry Provider Profiles Industry News Professional Resources ... Professional Bookstore General: [ Search Site Map Your Privacy CW World ... Home This site was developed in association with Illumina Interactive of Boston, MA

7. Tyrosinemia-11 An in depth look at this disease from Pediatric Database including investigations and management. http://www.icondata.com/health/pedbase/files/TYROSIN1.HTM

8. Tyrosinemia Reaching out and connecting tyrosinemia families throughout the world .. Purpose To allow a forum for families to share experiences and tips for management of tyrosinemia http://groups.msn.com/tyrosinemia/home.htm

var nEditorialCatId = 96; MSN Home My MSN Hotmail Shopping ... Money Web Search: document.write(''); Groups Groups Home My Groups Language ... Help tyrosinemia tyrosinemia@groups.msn.com What's New Join Now Message Board Chat room webpage ... Recommend This Group to a Friend Welcome! This is the place for all people interested in connecting with others with Tyrosinemia. Tyrosinemia is an inborn error of metabolism in which the body can not effectively break down the amino acid tyrosine. Treatment varies depending on the specific type. A low protein diet may be required. The information provided is offered for general informational and educational purposes only. It is not offered as and does not constitute medical advice. In no way are any of the materials presented meant to be a substitute for professional medical care or attention by a qualified practitioner, nor should they be construed as such. Contact your physician if there are any concerns or questions. Click Here to Search This Site FastCounter by bCentral updated 1/2/2003 New Messages View all Hi, Check out Annalee's website. http://www.babyfriends.nu/medlem/EliseL/ I have added it to the ty...

9. Tyrosinemia tyrosinemia, tyrosinemia@groups.msn.com, Welcome! This is the place for all people interested in connecting with others with tyrosinemia. http://groups.msn.com/tyrosinemia/_whatsnew.msnw?pgmarket=en-us

10. Tyrosinemia What is it? tyrosinemiais a hereditary genetic inborn error of the metabolism that causes severe liver The gene defect for tyrosinemia is an autosomal recessive genetic trait and http://www.savebabies.org/diseasedescriptions/tyrosinemia.htm

11. National Library Of Medicine The synonyms of tyrosinemia 11, a summary and major features. http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=tyrosinemia II&field=

12. Tyrosinemia tyrosinemia. Test. Bacterial inhibition assay of tyrosine. Genetics. Autosomal recessive. 294 000 in 1991. Nonbreastfeeding Canadian Inuits 1 in 16. Pathology Neonatal tyrosinemia and increased http://www.family.georgetown.edu/welchjj/netscut/genetics/Tyrosinemia.html

Tyrosinemia Test Bacterial inhibition assay of tyrosine Genetics Autosomal recessive 2:94,000 in 1991 Nonbreastfeeding Canadian Inuits: 1 in 16 Pathology Neonatal tyrosinemia and increased excretion of tyrosine and its metabolites are not uncommon in premature infants. Type I tyrosinemia (tyrosinosis) is caused by a deficiency of faumarylacetoacetase. Type II tyrosinemia (Richner-Hanhart Syndrome) is caused by a deficiency of hepatic tyrosine aminotransferase, the rate-limiting enzyme of tyrosine catabolism. Diagnosis Neonatal tyrosinemia lethargy, difficulty swallowing, impaired motor activity, prolonged jaundice, and increased levels of galactosse, phenyalanine, histidine and cholesterol. Mild acidosis in about half of the infants. Type I acute form cabbage-like odor, failure to thrive, vomiting, diarrhea, hepatomegaly, fever, jaundice, edema, melena, and progressive liver disease, which can lead to death in the first year of life. Type I chronic form milder, chronic liver disease, renal tubular dysfunction (Fanconi syndrome), hypophosphatemic rickets. Death in the first decade of life. Type II an oculocutaneous syndrome, findings present in infancy or early childhood. Skin lesions begin with or after the eye lesions. Long term effects include conreal scarring and glaucoma. Mental retardation sometimes reported.

13. Hereditary Tyrosinemia The two most common inborn errors of tyrosine catabolism are hepatorenal tyrosinemia (tyrosinemia type I) and oculocutaneous tyrosinemia (tyrosinemia type II). http://www.meadjohnson.com/metabolics/hereditarytyrosinemia.html

An Overview Hypertyrosinemia can be caused by several conditions, including hereditary diseases of tyrosine catabolim. The two most common inborn errors of tyrosine catabolism are hepatorenal tyrosinemia (tyrosinemia type I) and oculocutaneous tyrosinemia (tyrosinemia type II). The two diseases are completely different clinically. Patients with hepatorenal tyrosinemia can develop a wide range of liver and kidney problems, as well as acute episodes of peripheral neuropathy. In oculocutaneous tyrosinemia, the symptoms are painful thickening of the cornea, hyperkeratosis of the palms and soles, and in some cases mental impairment. Despite these differences, the dietary management of infants and children with either condition centers on restriction of phenylalanine and tyrosine, the precursor amino acids of the abnormal metabolic pathway. Introduction In this review we will discuss the diagnosis and dietary management of infants and children with either of two diseases: (1) hepatorenal tyrosinemia (hereditary tyrosinemia type I) and (2) oculocutaneous tyrosinemia (hereditary tyrosinemia type II). Hepatorenal tyrosinemia is caused by a deficiency of fumarylacetoacetate hydrolase (FAH) (see Figure 1) and is inherited as an autosomal recessive trait. Although hepatorenal tyrosinemia is panethnic, almost half of all reported cases are from the Saguenay-Lac St-Jean region of Quebec, Canada, where the disease is common because of a complex founder effect.

14. Tyrosinemia WHAT IS tyrosinemia? Hereditary tyrosinemia is a genetic inborn error of metabolism associated with severe liver disease in infancy. http://www.liverkids.org.au/tyrosinemia.htm

This site is hosted by Netfirms Web Hosting WHAT IS TYROSINEMIA? Hereditary tyrosinemia is a genetic inborn error of metabolism associated with severe liver disease in infancy. The disease is inherited in an autosomal recessive fashion which means that in order to have the disease, a child must inherit two defective genes, one from each parent. In families where both parents are carriers of the gene for the disease, there is a one in four risk that a child will have tyrosinemia. About one person in 100 000 is affected with tyrosinemia globally. HOW IS TYROSINEMIA CAUSED? Tyrosine is an amino acid which is found in most animal and plant proteins. The metabolism of tyrosine in humans takes place primarily in the liver. Tyrosinemia is caused by an absence of the enzyme fumarylacetoacetate hydrolase (FAH) which is essential in the metabolism of tyrosine. The absence of FAH leads to an accumulation of toxic metabolic products in various body tissues, which in turn results in progressive damage to the liver and kidneys. WHAT ARE THE SYMPTOMS OF TYROSINEMIA?

15. Tyrosinemia Some tyrosinemia links. Look at these for the variety they represent American Liver Foundation. test interpretations from a lab site (with some references) The Quebec Experience " of Quebec has http://acadprojwww.wlu.edu/vol4/BlackmerH/public_html/xliberty/chem/tyro.html

Some Tyrosinemia links Look at these for the variety they represent: American Liver Foundation test interpretations from a lab site (with some references) The Quebec Experience "Due to a complex founder effect, the province of Quebec has an unusually high prevalence of tyrosinemia, particularly in the Saguenay/Lac Saint-Jean region (where the prevalence is 1 in 1850)..." Why are some mutations more common in some population groups? A good basic introduction to some aspects of epidemiological demography, or demographic epidemiology, with some of the tricky bits nicely explained. Children's Liver Alliance tyrosinemia links Directed Case Study : The Death of Baby Pierre - A Genetic Mystery (Clyde Freeman Herreid, SUNY Buffalo) abstract of an article from Hepatology ("Official Journal of the American Association for the Study of Liver Diseases") slide images from Metabolic Disorders of the Liver in the Age of Transplantation, Presented at the UPMC Diagnostic Pathology Conference, January 2, 1997 (Ronald Jaffe, M.B., B.Ch.) Defects in Amino Acid Metabolism (leads to OMIM articles)

16. Tyrosinemia tyrosinemia (TYRO) Type I, II III An Amino Acid Disorder. What is it? Studies show that 1 of every 100,000 live births will have tyrosinemia. http://www.savebabies.org/diseasedescriptions/tyrosinemia.php

Search Our Site! An Amino Acid Disorder What is it? Tyrosinemia is a hereditary genetic inborn error of the metabolism that causes severe liver disease in infancy. Affected persons commonly develop cirrhosis of the liver and will eventually require liver transplantation to survive. Inheritance and Frequency The gene defect for Tyrosinemia is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance that the child will be a carrier for the gene defect. Studies show that 1 of every 100,000 live births will have Tyrosinemia. The severest form of the disease causes symptoms within the first months of life including poor weight gain, enlarged liver and spleen, swelling of the legs and increased tendency of bleeding. Long Term Effects Even with therapy, death frequently occurs within six to nine months of life for sufferers of the severe form. Children with the less severe form also suffer from enlargement of the liver and spleen, poor weight gain, vomiting and diarrhea.

17. Tyrosinemia - Liver Health Information - The American Liver Foundation tyrosinemia, Hereditary tyrosinemia is a genetic inborn error of metabolism associated with severe liver disease in infancy. The http://www.liverfoundation.org/db/articles/1052

Liver Health Articles Liver Health Links Patient Stories PDF Newsletter ... Publications Tyrosinemia Hereditary tyrosinemia is a genetic inborn error of metabolism associated with severe liver disease in infancy. The disease is inherited in an autosomal recessive fashion which means that both parents must be carriers of the gene for the disease. In such families, there is a one out of four risk that pregnancies will produce an affected infant. The clinical features of the disease tend to fall into two categories: In the so-called acute form of the disease, abnormalities appear in the first month of life. Babies may show poor weight gain, enlarged liver and spleen, distended abdomen, swelling of the legs and increased tendency to bleeding, particularly nose bleeds. Jaundice may or may not be prominent. Despite vigorous therapy, death from hepatic failure frequently occurs between three and nine months of age. Children with this form of disease are excellent candidates for liver transplantation. Some children have a more chronic form of tyrosinemia with a gradual onset and less severe clinical features. In these, enlargement of the liver and spleen are prominent, the abdomen is distended with fluid, weight gain may be poor, and vomiting and diarrhea occur frequently. Affected patients usually develop cirrhosis and its complications. In older patients, there is an increases risk of liver cancer. These children also require liver transplantation.

18. Paul And Erich Lauffs: Tyrosinemia - The American Liver Foundation tyrosinemia They decided to go ahead, and Colleen had amniocentesis. When the results of tests were negative for tyrosinemia, the ecstatic family celebrated. http://www.liverfoundation.org/db/stories/1011

Liver Health Articles Liver Health Links Patient Stories PDF Newsletter ... Publications Paul and Erich Lauffs: Tyrosinemia At first glance, Paul and Erich Lauffs, ages 10 and 6, of San Diego, CA, seem like typical boys. They run, play, climb trees, fight with each other, and do all the other things boys do. But they are far from typical. Both children were born with hereditary tyrosinemia, a genetic inborn error of metabolism associated with severe, and frequently fatal, liver disease in infancy. Their mother, Colleen, calls them "miracle children," because their survival is indeed a miracle. The family's long ordeal began in July, 1986, when Paul was born. He was slightly jaundiced, but this did not concern his mother so much as his general mood. "Paul was always cranky and irritable," she recalled. "I was a first-time mother and didn't know a lot about babies. But I knew that something must be terribly wrong with this child for him to be so miserable." In addition to Paul's general crankiness were many disturbing physical symptoms. His stools were occasionally bloody, and tests showed his blood wasn't clotting properly. To make matters worse, he had frequent bouts of projectile vomiting. Paul's parents, Hubert and Colleen, took the baby to numerous specialists in California and around the country. Numerous tests were done, but nobody was able to determine what the problem was. When Paul was three months old, the family went to Johns Hopkins University Medical Center. "Finally, after two more months of tests and examinations, a consulting pediatrician suggested that it might be tyrosinemia, a rare liver disease that affects large numbers of French Canadians and northern Europeans. It is only diagnosed in Quebec and Holland," Colleen said. "Dr. Dave Valley ordered the tests, and they came back positive. Even though this was not good news, at least we now knew what was wrong with Paul."

19. Tyrosinemia tyrosinemia. Test. Pathology. Neonatal tyrosinemia and increased excretion of tyrosine and its metabolites are not uncommon in premature infants. http://gucfm.georgetown.edu/welchjj/netscut/genetics/Tyrosinemia.html

Tyrosinemia Test Bacterial inhibition assay of tyrosine Genetics Autosomal recessive 2:94,000 in 1991 Nonbreastfeeding Canadian Inuits: 1 in 16 Pathology Neonatal tyrosinemia and increased excretion of tyrosine and its metabolites are not uncommon in premature infants. Type I tyrosinemia (tyrosinosis) is caused by a deficiency of faumarylacetoacetase. Type II tyrosinemia (Richner-Hanhart Syndrome) is caused by a deficiency of hepatic tyrosine aminotransferase, the rate-limiting enzyme of tyrosine catabolism. Diagnosis Neonatal tyrosinemia lethargy, difficulty swallowing, impaired motor activity, prolonged jaundice, and increased levels of galactosse, phenyalanine, histidine and cholesterol. Mild acidosis in about half of the infants. Type I acute form cabbage-like odor, failure to thrive, vomiting, diarrhea, hepatomegaly, fever, jaundice, edema, melena, and progressive liver disease, which can lead to death in the first year of life. Type I chronic form milder, chronic liver disease, renal tubular dysfunction (Fanconi syndrome), hypophosphatemic rickets. Death in the first decade of life. Type II an oculocutaneous syndrome, findings present in infancy or early childhood. Skin lesions begin with or after the eye lesions. Long term effects include conreal scarring and glaucoma. Mental retardation sometimes reported.

20. Tyrosinemia - Information / Diagnosis / Treatment / Prevention home rare disorders tyrosinemia tyrosinemia. Web Directory ? National Library of Medicine The synonyms of tyrosinemia 11, a summary and major features. http://www.healthcyclopedia.com/rare-disorders/tyrosinemia.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... rare disorders > tyrosinemia Tyrosinemia Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Health News Web Directory: Related Topics: Genetic Disorders Nutrition and Metabolism Disorders Health News: Search millions of published articles for news on Tyrosinemia Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: National Library of Medicine The synonyms of Tyrosinemia 11, a summary and major features. NORD: Tyrosinemia, Hereditary Offers the synonyms, a general discussion and further resources. Tyrosinemia For all people interested in connecting with others with this disease. Tyrosinemia-11 An in depth look at this disease from Pediatric Database including investigations and management.

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