21. Deficient DNA-ligase Activity In The Metabolic Disease Tyrosinemia Medical Sciences Deficient DNAligase activity in the metabolic disease tyrosinemia type I (replication/DNA repair/succinylacetone) http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. Tyrosinemia Definition - Medical Dictionary Definitions Of Popular Medical Terms Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=21238

23. Tyrosinemia Type II Definition - Medical Dictionary Definitions Of Popular Medic Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=30898

24. Paul And Erich Lauffs: Tyrosinemia - The American Liver Foundation Both children were born with hereditary tyrosinemia, a genetic inborn error of When the results of tests were negative for tyrosinemia, the ecstatic 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."

25. OMIM - TYROSINEMIA, TYPE I http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276700

26. Entrez PubMed tyrosinemia Article in Finnish Salo MK. Publication Types. Editorial; Review;Review, Tutorial. MeSH Terms. Amino Acid Metabolism, Inborn http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

27. Newborn Screening Program - Tyrosinemia tyrosinemia type I (hepatorenal tyrosinemia or fumarylacetoacetate Note Somecases of tyrosinemia may not be detected by newborn screening when http://www.idph.state.il.us/HealthWellness/fs/tyrosinemia.htm

Tyrosinemia Definition The tyrosinemias are a group of inherited disorders of amino acid metabolism, each caused by an enzymatic defect effecting tyrosine catabolism, which leads to elevated levels of tyrosine. Newborn screening in Illinois includes testing for the following type of tyrosinemia: Tyrosinemia type I (hepatorenal tyrosinemia or fumarylacetoacetate hydrolase (FAH) deficiency) Note: Some cases of tyrosinemia may not be detected by newborn screening when specimens are collected in the first few days of life, as tyrosine levels may not be sufficiently elevated for detection by tandem mass spectrometry. Clinical Symptoms There is variability in age of onset, depending on the type of tyrosinemia. In some forms of the disease, children may be clinically diagnosed in the neonatal period. Type I, the most severe form of tyrosinemia, results in the accumulation of tyrosine and its metabolites in the liver causing severe liver disease. Kidney function and peripheral nerves also are affected. Patients with Type I may have acute liver crisis, episodes of peripheral neuropathy and chronic liver disease. Affects on the kidneys can range from mild tubular dysfunction to renal failure. Early symptoms can include fever, diarrhea, vomiting, enlarged liver, jaundice, rickets, lethargy and irritability. Newborn Screening and Definitive Diagnosis In Illinois, newborn screening for tyrosinemia type I is performed using tandem mass spectrometry. False positive and false negative results may be possible with this screening. Not all cases of tyrosinemia will be detected by newborn screening. Infants with a presumptive positive screening test require prompt follow-up. Not all cases of tyrosinemia will be detected by newborn screening.

28. Tyrosinemia - Wikipedia, The Free Encyclopedia tyrosinemia is an error of metabolism, usually inborn, in which the body can noteffectively tyrosinemia is inherited in an autosomal recessive pattern. http://en.wikipedia.org/wiki/Tyrosinemia

You did it! Over US$240,000 was donated in the 21-day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Tyrosinemia From Wikipedia, the free encyclopedia. Tyrosinemia is an error of metabolism , usually inborn, in which the body can not effectively break down the amino acid tyrosine , found in most animal and plant proteins. Tyrosinemia is inherited in an autosomal recessive pattern. There are three types of tyrosinemia, each with distinctive symptoms and caused by the deficiency of a different enzyme. Contents Type I tyrosinemia Type II tyrosinemia Type III tyrosinemia Treatment ... edit Type I tyrosinemia Type I tyrosinemia is the most severe form of this disorder and is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, encoded by the gene FAH . Fumarylacetoacetate hydrolase is the last in a series of five enzymes needed to break down tyrosine. Symptoms of type I tyrosinemia usually appear in the first few months of life and include failure to gain weight and grow at the expected rate (failure to thrive), diarrhea, vomiting, yellowing of the skin and whites of the eyes ( jaundice ), cabbagelike odor, and increased tendency to bleed (particularly

29. Tyrosinemia - Definition Of Tyrosinemia By The Free Online Dictionary, Thesaurus Definition of tyrosinemia in the Online Dictionary. Meaning of tyrosinemia.What does tyrosinemia mean? tyrosinemia synonyms, tyrosinemia antonyms. http://www.thefreedictionary.com/tyrosinemia

Domain='thefreedictionary.com' word='tyrosinemia' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia tyrosinemia Also found in: Medical Wikipedia 0.03 sec. Page tools Printer friendly Cite / link Email Feedback Thesaurus Legend: Synonyms Related Words Antonyms Noun tyrosinemia - autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation autosomal recessive defect autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome Mentioned in References in classic literature No references found No references found Dictionary/thesaurus browser Full browser Tyrolese Tyrolite Tyronism Tyrosin ... tyrosine kinase inhibitor tyrosinemia tyrothricin Tyrotoxicon Tyrotoxine Tyrr ... Tyrone, Oklahoma

30. Tyrosinemia Information Treatment of tyrosinemia type I includes a diet restricted in tyrosine and For individuals with tyrosinemia type I, liver transplantation has been an http://www.liversociety.org/html/tyrosinemia.html

Home Liver Health Liver Diseases Liver Disorders ... Liver Transplants Tyrosinemia Definition The tyrosinemias are a group of inherited disorders of amino acid metabolism, each caused by an enzymatic defect effecting tyrosine catabolism, which leads to elevated levels of tyrosine. Newborn screening in Illinois includes testing for the following type of tyrosinemia: Tyrosinemia type I (hepatorenal tyrosinemia or fumarylacetoacetate hydrolase (FAH) deficiency) Note: Some cases of tyrosinemia may not be detected by newborn screening when specimens are collected in the first few days of life, as tyrosine levels may not be sufficiently elevated for detection by tandem mass spectrometry. Clinical Symptoms There is variability in age of onset, depending on the type of tyrosinemia. In some forms of the disease, children may be clinically diagnosed in the neonatal period. Type I, the most severe form of tyrosinemia, results in the accumulation of tyrosine and its metabolites in the liver causing severe liver disease. Kidney function and peripheral nerves also are affected. Patients with Type I may have acute liver crisis, episodes of peripheral neuropathy and chronic liver disease. Affects on the kidneys can range from mild tubular dysfunction to renal failure. Early symptoms can include fever, diarrhea, vomiting, enlarged liver, jaundice, rickets, lethargy and irritability. Newborn Screening and Definitive Diagnosis In Illinois, newborn screening for tyrosinemia type I is performed using tandem mass spectrometry. False positive and false negative results may be possible with this screening. Not all cases of tyrosinemia will be detected by newborn screening. Infants with a presumptive positive screening test require prompt follow-up. Not all cases of tyrosinemia will be detected by newborn screening. When receiving a presumptive positive result, the clinician should immediately check on the clinical status of the baby and refer the infant to a metabolic disease specialist.

31. Tyrosinemia, Hereditary tyrosinemia type I is a rare genetic metabolic disorder characterized by lack ofthe enzyme fumarylacetoacetate http://my.webmd.com/hw/health_guide_atoz/nord446.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Tyrosinemia, Hereditary Important It is possible that the main title of the report Tyrosinemia, Hereditary is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Hepatorenal tyrosinemia Hereditary tyrosinemia type 1 Fumarylacetoacetase deficiency Congenital tyrosinosis Disorder Subdivisions Tyrosinemia type 1, acute form Tyrosinemia type 1, chronic form General Discussion Tyrosinemia type I is a rare genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed to break down the amino acid tyrosine. Failure to properly break down tyrosine leads to abnormal accumulation of tyrosine and its metabolites in the liver, potentially resulting in severe liver disease. Tyrosine may also accumulate in the kidneys and central nervous system. Symptoms and physical findings associated with tyrosinemia type I include failure to gain weight and grow at the expected rate (failure to thrive), fever, diarrhea, vomiting, an abnormally enlarged liver (hepatomegaly), and yellowing of the skin and the whites of the eyes (jaundice). Tyrosinemia type I may progress to more serious complications such as severe liver disease. Tyrosinemia type one is inherited as an autosomal recessive trait.

32. Tyrosinemia Model. One group in Quebec. Founded 1989. (Bilingual) Provides support andinformation for parents of http://my.webmd.com/hw/health_guide_atoz/shc29tyr.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Groupe Aide Aux Enfants Tyrosinemiques du Quebec Tyrosinemia Groupe Aide Aux Enfants Tyrosinemiques du Quebec Model. One group in Quebec. Founded 1989. (Bilingual) Provides support and information for parents of children with tyrosinemia type I (aka alpha foetoprotein or hepatorenal type hereditary tyrosinemia). Pamphlets and diet book available in French; literature available in French and English. Networks on computer, and face-to-face meetings. WRITE: Groupe Aide Aux Enfants Tyrosinemiques du Quebec c/o Gerard Tremblay 3162, rue Granville Jonquiere, Quebec G7S 2B9 Canada CALL: 418-548-1580 E-MAIL: gerard.tremblay@sympatico.ca

33. Tyrosinemia tyrosinemia Reaching out and connecting tyrosinemia families tyrosinemia -Some tyrosinemia links Look at these for the variety they represent. http://www.health-nexus.com/tyrosinemia.htm

The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up 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 Tyrosinemia 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. tyrosinemia-11 ... liver and renal functions are not affected. in Tyrosinemia-I, the damage is not done by the build-up of tyrosine but by ... Tyrosinemia Management Tyrosinemia: Background C. Ronald ... of Medicine Seattle, WA Tyrosinemia-I is a rare but devastating ... six months of age. If tyrosinemia-I is unrecognized and ... before 10 years of age. Tyrosinemia is inherited as an autosomal ... CLA - Tyrosinemia cd3. This site is hosted by Netfirms Web Hosting. Alagille's Syndrome. Neonatal Hepatitis. Biliary Atresia. Nutrition and the Liver. Galactosemia. Type I Glycogen Storage Disease. Gilbert's...

34. Biochemical Genetics Clinic - University Of Washington, Seattle - Tyrosinemia The tyrosinemia Pal was developed to help families in the management of Many families find it helpful to take their tyrosinemia Pal to medical http://depts.washington.edu/tyros/tyrpal.htm

Tyrosinemia Pal The Tyrosinemia Pal was developed to help families in the management of tyrosinemia. It is divided into sections to help keep papers, appointments, and other information organized. Each section begins with a short introduction that describes its purpose and suggests information that could be added. Many families find it helpful to take their Tyrosinemia Pal to medical appointments. That way, all necessary information is in one place. The Tyrosinemia Pal was developed through a grant from Rare Disease Therapeutics and is distributed to families of children with tyrosinemia. Download the Tyrosinemia Pal below. PDF documents preceded by this icon require Adobe Acrobat Reader for viewing or printing. Acrobat is available free of charge from the Adobe Web site at http://www.adobe.com/prodindex/acrobat/readstep.html Word documents preceded by this icon require Microsoft Word or Microsoft Word Reader for viewing or printing. Word Reader is available free of charge from the Microsoft Web site Table of Contents and Introductory Material Table of contents Introductory letter About tyrosinemia, type 1

35. Biochemical Genetics Clinic - University Of Washington, Seattle - Tyrosinemia tyrosinemia type 1 (the term “tyrosinemia” is used to refer to tyrosinemia type The treatment for tyrosinemia consists of a medication and special diet http://depts.washington.edu/tyros/abouttyr.htm

About Tyrosinemia The treatment for tyrosinemia consists of a medication and special diet: The diet of an individual with tyrosinemia consists of a special formula (also called medical food) with very little tyrosine combined with low protein foods. For some individuals, liver transplants may be necessary. Regular monitoring of laboratory values is also part of treatment of tyrosinemia; it helps the health care team prescribe appropriate medication doses and formula composition. Regular monitoring includes: Blood draw every 3 months Regular clinic appointments (this varies between clinics; often, monthly clinic visits for the first 6-12 months of life, and then visits every 3-6 months) A child with appropriately managed blood tyrosine levels will act and look like other children of the same age. The only difference between children with tyrosinemia and other children is in the foods the child with tyrosinemia can and cannot eat and the medication. Detailed information about tyrosinemia is included on this website: The Tyrosinemia Self-management Timeline Genetics and Tyrosinemia Home About the Clinic About Tyrosinemia For Health Care Providers ... Site Map

36. SHS North America -- Tyrosinemia Hypermethioninemia Isovaleric Acidemia MSUD Modules PKU Propionic Acidemia tyrosinemia. Neurology. KetoCal tyrosinemia. Type I and Type II http://www.shsna.com/pages/tyrosinemia.htm

Home About Us Products Ordering ... Contact Us Products Pediatric GI/Allergy Neocate Infant Formula Neocate One+ Neocate Junior Pediatric E028 ... Pepdite One+ Metabolics At A Glance Glutaric Acidemia Hypermethioninemia Isovaleric Acidemia ... Tyrosinemia Neurology KetoCal Tarvil Modules Complete Amino Acid Essential Amino Acid Flavor Packets Phlexy-Vits ... Super Soluble Duocal Low Protein Products Loprofin and Wel-Plan Tyrosinemia Type I and Type II Products Recommended Age Groups Description XPhe, XTyr Analog Infants birth to 1 year Phenylalanine-, Tyrosine-free XPhe, XTyr Maxamaid Children 1 to 8 years Phenylalanine-, Tyrosine-free

37. Health Professionals Guide To Newborn Screening: Tyrosinemia tyrosinemia (Type I, II, III). Autosomal recessive amino acid disorder caused by a Treatment, The treatment for tyrosinemia type I is the dietary http://www.slh.wisc.edu/newborn/guide/tyrosinemia.php

WSLH Newborn Guide Tyrosinemia ... Advisory Committee Health Professionals Guide to Newborn Screening: Newborn Screening Disorders Tyrosinemia (Type I, II, III) Autosomal recessive amino acid disorder caused by a deficiency in the fumarylacetoacetate hydrolase enzyme activity causing the build up of the amino acid tyrosine in the blood. Early detection and treatment is successful in preventing poor growth, liver damage, swelling of the legs, and inappropriate bleeding. Prevalence (WI): Analyte Measured: Tyrosine Reporting Ranges: Feeding Effect: Minimal Timing Effect: 24 hours of age: Results are valid Confirmation: Immediate consult with a metabolic specialist at one of the states two metabolic treatment centers. Treatment: The treatment for tyrosinemia type I is the dietary restriction of phenylalanine, methionine, tyrosine and administration of the drug NTBC. Although this treatment regime is successful in delaying the clinical symptoms of tyrosinemia type I, the only effective long-term treatment is liver transplantation. Information on treatment centers is also available on this site. For information about other screened disorders, click on the next page button, or follow one of these links:

38. Tyrosinemia - Definition Of Tyrosinemia In General Noun 1. tyrosinemia autosomal recessive defect in tyrosine metabolism resultingin liver and kidney disturbances and mental retardation. http://dictionary.laborlawtalk.com/tyrosinemia

Add to Favorites General Encyclopedia Legal ... Law forum Search Word: Visit our Law forums Labor Law Accidents Law Bankruptcy Law Business Law ... Tax Law Noun tyrosinemia - autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation Browse tyrosine tyrant bird tyrosinemia tzar ... U Search Word: General Encyclopedia Legal Medical Computer Science Law Forum Embed a dictionary search in your own web page Link to Us Advertise Add to Favorites ... Legal notices

39. Tyrosinemia - [Support Group] This information is provided as a resource and does not constitute an endorsementfor any group. It is the responsibility of the reader to decide whether a http://www.bchealthguide.org/kbase/shc/shc29tyr.htm

var hwPrint=1;var hwDocHWID="shc29tyr";var hwDocTitle="Tyrosinemia";var hwRank="1";var hwSectionHWID="shc29tyr-Header";var hwSource="en-caQ2_05";var hwDocType="Shc"; Self Help Clearinghouse Tyrosinemia This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Groupe Aide Aux Enfants Tyrosinemiques du Quebec Model. One group in Quebec. Founded 1989. (Bilingual) Provides support and information for parents of children with tyrosinemia type I (aka alpha foetoprotein or hepatorenal type hereditary tyrosinemia). Pamphlets and diet book available in French; literature available in French and English. Networks on computer, and face-to-face meetings. WRITE: Groupe Aide Aux Enfants Tyrosinemiques du Quebec c/o Gerard Tremblay 3162, rue Granville

40. Tyrosinemia, Hereditary tyrosinemia type I is a rare genetic metabolic disorder characterized by lack ofthe enzyme fumarylacetoacetate hydrolase (FAH), which is needed to break http://www.bchealthguide.org/kbase/nord/nord446.htm

var hwPrint=1;var hwDocHWID="nord446";var hwDocTitle="Tyrosinemia, Hereditary";var hwRank="1";var hwSectionHWID="nord446-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Tyrosinemia, Hereditary Important It is possible that the main title of the report Tyrosinemia, Hereditary is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Hepatorenal tyrosinemia Hereditary tyrosinemia type 1 Fumarylacetoacetase deficiency Congenital tyrosinosis Disorder Subdivisions Tyrosinemia type 1, acute form Tyrosinemia type 1, chronic form General Discussion Tyrosinemia type I is a rare genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed to break down the amino acid tyrosine. Failure to properly break down tyrosine leads to abnormal accumulation of tyrosine and its metabolites in the liver, potentially resulting in severe liver disease. Tyrosine may also accumulate in the kidneys and central nervous system. Symptoms and physical findings associated with tyrosinemia type I include failure to gain weight and grow at the expected rate (failure to thrive), fever, diarrhea, vomiting, an abnormally enlarged liver (hepatomegaly), and yellowing of the skin and the whites of the eyes (jaundice). Tyrosinemia type I may progress to more serious complications such as severe liver disease. Tyrosinemia type one is inherited as an autosomal recessive trait.

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