41. Tyrosinemia: Liver Transplants Save A Child, Cincinnati Children's Hospital Medi The Liver Transplant Team at Cincinnati Children s Hospital Medical Center changedthe outcome for Kyle, who has endured two liver tranplants. http://www.cincinnatichildrens.org/about/patient/tyrosinemia-kyle-wimberg.htm

Home Contact Us Site Map Go to Advanced Search ... Stay Informed / Sign Up for Our eNewsletter Patient Stories Tyrosinemia: Kyle Wimberg Thrives After Two Liver Transplants "Things Could Be Worse" As printed in the February 2004 edition of Leaps and Bounds At age 1, Kyle was diagnosed with a rare condition called tyrosinemia . With his third birthday just around the corner, he has already endured two liver transplants , two bouts of viral meningitis, serum sickness, a form of cancer and two broken bones in his left leg. After all this little boy has been through, he's surprisingly happy and content. His contagious smile brightens your day, and his adorable wink makes you melt. Kyle Wimberg Thrives After Two Liver Transplants With his third birthday just around the corner, Kyle Wimberg already has endured two liver transplants, two bouts of viral meningitis, serum sickness, a form of cancer and two broken bones in his left leg. Yet his mother says, "Things could be worse." What she has learned is to appreciate what she and her family have. "When he was in so much pain, I prayed, 'Let him live.' But I also said to God, 'I'll be miserable for the rest of my life, but take him now if it will stop his suffering.' Today, I say 'thank you' for every day without pain," says Janet Wimberg. Like most healthy babies, Kyle was chubby, but his arms and legs were skinny. At his one-year checkup, scheduled on his first birthday, Kyle's pediatrician detected an enlarged

42. Clinical Trial: Study Of NTBC For Tyrosinemia I Confirmed diagnosis of tyrosinemia Detected through newborn screening before theonset of symptoms OR Diagnosed on the basis of symptoms (liver disease, http://www.clinicaltrials.gov/ct/show/NCT00004443

Home Search Browse Resources ... About Study of NTBC for Tyrosinemia I This study is currently recruiting patients. Verified by FDA Office of Orphan Products Development April 2000 Sponsors and Collaborators: FDA Office of Orphan Products Development University of Washington Information provided by: FDA Office of Orphan Products Development ClinicalTrials.gov Identifier: Purpose OBJECTIVES: I. Assess the safety and efficacy of NTBC in children with tyrosinemia I. II. Evaluate the effects of NTBC on survival, rate of neurologic crises, improvement in renal tubular damage, reduction in the need for liver transplantation, and reduction in the development of hepatocarcinoma in these patients. Condition Intervention tyrosinemia I Drug: NTBC MedlinePlus related topics: Genetic Brain Disorders Genetic Disorders Metabolic Disorders Genetics Home Reference related topics: tyrosinemia Study Type: Interventional Study Design: Treatment, Safety/Efficacy Study Further Study Details: Expected Total Enrollment: 20 Study start: October 1998 PROTOCOL OUTLINE: Patients are stratified according to age at onset of symptoms (0-2 months vs 2-6 months vs greater than 6 months).

43. Clinical Trial: Phase II Study Of The Enzyme Inhibitor NTBC For Tyrosinemia Type PROTOCOL OUTLINE Only 2 patients with tyrosinemia type I are known to thisresearch team; PROTOCOL ENTRY CRITERIA tyrosinemia type I No cirrhosis No http://www.clinicaltrials.gov/ct/show/NCT00004333

Home Search Browse Resources ... About Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I This study has been completed. Sponsors and Collaborators: National Center for Research Resources (NCRR) University of Michigan Information provided by: Office of Rare Diseases (ORD) ClinicalTrials.gov Identifier: Purpose OBJECTIVES: Assess whether 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) at 0.6 mg/kg per day prevents liver failure in at least 1 patient with tyrosinemia type I. Condition Intervention Phase Tyrosinemia, Type I Drug: NTBC Phase II MedlinePlus related topics: Genetic Brain Disorders Genetic Disorders Metabolic Disorders Genetics Home Reference related topics: tyrosinemia Study Type: Interventional Study Design: Treatment Further Study Details: Study start: November 1994 PROTOCOL OUTLINE: Only 2 patients with tyrosinemia type I are known to this research team; others will be treated if found and if clinical conditions permit. The enzyme inhibitor 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) is administered orally, in 2 divided doses daily with meals. Patients will be followed closely for side effects attributable to NTBC.

44. Tyrosinemia - Information & News The Food and Drug Administration has cleared for marketing a new laboratory bloodtest that will help doctors screen newborn infants for a variety of http://www.news-medical.net/?keyword=Tyrosinemia

45. Tyrosinemia --  Encyclopædia Britannica tyrosinemia inherited inability of the body to metabolize normally the amino acidtyrosine. In the normal metabolic pathway of tyrosine, http://www.britannica.com/eb/article-9074023

Home Browse Newsletters Store ... Subscribe Already a member? Log in Content Related to this Topic This Article's Table of Contents tyrosinemia Print this Table of Contents Shopping Price: USD $1495 Revised, updated, and still unrivaled. The Official Scrabble Players Dictionary (Hardcover) Price: USD $15.95 The Scrabble player's bible on sale! Save 30%. Merriam-Webster's Collegiate Dictionary Price: USD $19.95 Save big on America's best-selling dictionary. Discounted 38%! More Britannica products tyrosinemia  Encyclopædia Britannica Article Page 1 of 1 also called Tyrosinosis, inherited inability of the body to metabolize normally the amino acid tyrosine. In the normal metabolic pathway of tyrosine, para p -)hydroxyphenylpyruvic acid is converted to homogentisic acid (in the liver) by a specific organic catalyst or enzyme, called p tyrosinemia... (75 of 151 words) var mm = [["Jan.","January"],["Feb.","February"],["Mar.","March"],["Apr.","April"],["May","May"],["June","June"],["July","July"],["Aug.","August"],["Sept.","September"],["Oct.","October"],["Nov.","November"],["Dec.","December"]];

46. Encyclopædia Britannica metabolic disease tyrosinemia. CURRENT SUBJECT. tyrosinemia. Main Article Index Entry. MORE SPECIFIC SUBJECTS. tyrosine transaminase http://www.britannica.com/eb/subject?subjectId=224810

47. Tyrosinemia tyrosinemia. Background Elevated blood Tyrosine levels are seen in three tyrosinemia Type I was described in 1957 and is caused by deficiency of http://www.pediatrix.com/body_screening_menu.cfm?id=1582

48. DermAtlas: Online Dermatology Image Library Dermatology Image,tyrosinemia Type 2 DermAtlas Dermatology Images tyrosinemia type 2,keratoderma,keratoderma,dermatologyimage,Richner-Hanhart syndrome, palmoplantar, palmoplantar images. http://dermatlas.med.jhmi.edu/derm/result.cfm?Diagnosis=-227629093

49. DermAtlas: Dermatology Image Tyrosinemia_type_2_1_041213 (tyrosinemia Type 2 - M DermAtlas Dermatology tyrosinemia type 2,keratoderma,Richner-Hanhart syndrome,palmoplantar images. http://dermatlas.med.jhmi.edu/derm/display.cfm?ImageID=215424362

50. Gucfm.georgetown.edu/welchjj/netscut/genetics/Tyro tyrosinemia NOAH pages containing tyrosinemia . Displaying 14 of 4. Children and LiverDisease Congenital Liver Defects; Signs and Symptoms of Liver Disease; http://gucfm.georgetown.edu/welchjj/netscut/genetics/Tyrosinemia.html

51. Database Search Results by the US Department of Health and Human Services. Searched keywords for tyrosinemia.American Liver Foundation Hereditary Disease Foundation http://www.health.gov/NHIC/NHICScripts/Hitlist.cfm?Keyword=Tyrosinemia

52. Georgia Division Of Public Health tyrosinemia (Type 1) is an autosomal recessive disorder resulting from the Transient Neonatal tyrosinemia In about 10 percent of newborns with an http://health.state.ga.us/programs/nsmscd/diag_tyrosin.asp

About Us Health Data Publications Programs ... Calendar Search this Site Powered by Services NSMSCD Program Overview Screening Disorders ... Education Newborn Screening for Metabolic and Sickle Cell Disorders Program Tyrosinemia Tyrosinemia (Type 1) is an autosomal recessive disorder resulting from the body's inability to process the amino acid tyrosine. A deficiency or reduction of the fumarylacetoacetate hydrolase (FAH) enzyme results in the accumulation of tyrosine and its toxic metabolite, succinylacetone. Prevalence (GA) 1:400,000 Clinical Features Tyrosinemia, Type I (Hepatorental) - The chief findings are hepatocellular damage leading to cirrhosis and liver failure, and renal tubular damage resulting in the Fanconi syndrome. Failure to thrive, hepatomegaly, rickets, thrombocytopenia and a profound clotting disorder, which may resist therapy with parenteral vitamin K, are frequent. In older cases, hepatic carcinoma is frequent. The differential diagnosis of this condition is difficult since it mimics other causes of liver disease. Tyrosinemia, Type II (Oculocutaneous) - This rare form of tyrosinemia results from tyrosine aminotransferase (TAT) deficiency. Painful corneal ulceration, photophobia and unusual red, discrete raised hyperkeratotic pustules on the palms and soles are characteristics of this condition. Almost half of the patients develop mental retardation. The eye and skin lesions resist all conventional therapy, but respond rapidly to a phenylalanine and tyrosine restricted diet.

53. Disease Category Listing (207): Tyrosinemia CenterWatch Listing of Clinical Research Trials for tyrosinemia. 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: September 8, 2005 at 3:12:33 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 , Boston, MA

54. Tyrosinemia tyrosinemia. Liver. tyrosinemia. tyrosinemia is a genetic defect in metabolism,associated with liver disease. tyrosinemia. What is tyrosinemia? http://tjsamson.client.web-health.com/web-health/topics/GeneralHealth/generalhea

Liver Tyrosinemia Tyrosinemia is a genetic defect in metabolism, associated with liver disease Tyrosinemia What is tyrosinemia? Tyrosinemia is a genetic disease, associated with the development of severe liver damage in affected infants. What causes tyrosinemia? Tyrosinemia occurs because of abnormalities (mutations) in an individual's DNA. DNA is the "blueprint" for life, the set of instructions carried in the nucleus of every cell of the body (except red blood cells). A discrete unit of instruction contained in the DNA is called a gene. Most genes encode (carry information necessary for the synthesis of) proteins. Proteins, in turn, perform essential life functions. Each gene is present in two copies: one copy (or allele) inherited from the mother and one copy inherited from the father. Tyrosinemia occurs if a child has mutations in both copies (alleles) of a particular gene, the gene for fumarylacetoacetate hydrolase (FAH). A child can inherit two defective copies of the FAH gene if both parents are tyrosinemia carriers. (Each parent has one normal allele of the FAH gene and one defective allele.) Carriers do not have tyrosinemia because the normal copy of the FAH gene produces a normal FAH protein, compensating for the defective copy of the gene. In genetic terms, the normal allele of the gene is dominant and tyrosinemia is recessive.

55. Tyrosinemia - Genetics Home Reference Where can I find additional information about tyrosinemia? What other names dopeople use for What if I still have specific questions about tyrosinemia? http://ghr.nlm.nih.gov/condition=tyrosinemia

Home What's New Browse Handbook ... Search Tyrosinemia Related Gene(s) Quick links to this topic MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Tyrosinemia On this page: What is tyrosinemia? How common is tyrosinemia? ... help with understanding tyrosinemia? What is tyrosinemia? Tyrosinemia is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. Tyrosinemia is caused by the shortage (deficiency) of one of the enzymes required for the multistep process that breaks down tyrosine. If untreated, tyrosine and its byproducts build up in tissues and organs, which leads to serious medical problems. There are three types of tyrosinemia, each with distinctive symptoms and caused by the deficiency of a different enzyme. Type I tyrosinemia is the most severe form of this disorder and is caused by a shortage of the enzyme fumarylacetoacetate hydrolase. Symptoms 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 nosebleeds). Type I tyrosinemia can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer.

56. Tyrosinemia - OMIM - Genetic Disorder Catalog - Genetics Home Reference in the Genetics Home Reference condition summary on tyrosinemia. OMIMtyrosinemia, type I This link leads to a site outside Genetics Home Reference. http://ghr.nlm.nih.gov/condition=tyrosinemia/show/OMIM

Home What's New Browse Handbook ... Search Tyrosinemia Back to condition summary Tyrosinemia OMIM - Genetic disorder catalog These resources supplement the information in the Genetics Home Reference condition summary on tyrosinemia. OMIM: Tyrosinemia, type I OMIM: Tyrosinemia, type II ... III Last Comprehensive Review: July 2005 Published: September 6, 2005 Contact NLM Customer Service Lister Hill National Center for Biomedical Communications ... Selection Criteria for Web Links Indicates a page outside Genetics Home Reference.

57. Descriptions tyrosinemia type II is an autosomal recessive condition caused by a defect inthe hepatic tyrosine aminotransferase gene (see figure) responsible for http://www.childrenshospital.org/newenglandconsortium/NBS/descriptions/tyro2.htm

Tyrosinemia II Introduction Tyrosinemia type II is an autosomal recessive condition caused by a defect in the hepatic tyrosine aminotransferase gene (see figure) responsible for converting tyrosine to 4-hydroxyphenylpyruvate. It is characterized clinically by eye and skin lesions with neurological sequelae including developmental delay, behavioral problems and self injurious behaviors also occurring frequently. Clinical Features Neonatal Photophobia, lacrimation, burning eye pain, infamed conjunctiva Infancy/childhood The above plus Blistering lesions on the palms and soles Microcephaly Developmental delay Behavioral problems Consequences Diagnosis Newborn screen Tandem mass spectrometry Confirmation Repeat newborn screen Elevated plasma and CSF Tyrosine level Elevated urinary phenolic acid metabolites Confirmatory diagnosis is possible via enzyme assay from liver biopsy Treatment A low protein or special diet restricting phenylalanine and tyrosine will alleviate failure to thrive in days, the eye condition in weeks and the skin condition in months. Maintaining

58. Tyrosinemia, Hereditary Synonyms, Eastern Carolina tyrosinemia, Hereditary Synonyms University Health Systems of Eastern Carolinaserves tarboro, ahoskie, edento, winsor, maxhead, dear county, http://www.uhseast.com/114405.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Tyrosinemia, Hereditary Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report 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.

59. Tyrosinemia, Eastern Carolina tyrosinemia University Health Systems of Eastern Carolina serves tarboro,ahoskie, edento, winsor, maxhead, dear county, outebanks counties in eastern http://www.uhseast.com/117979.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. 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 Jonquiere, Quebec

60. Expanded Newborn Screening Using Tandem Mass Spectromety Can other members of the family have tyrosinemia 1 or be carriers? Does tyrosinemia 1 happen more often in a certain ethnic group? Does tyrosinemia 1 go http://www.newbornscreening.info/Parents/aminoaciddisorders/Tyrosinemia.html

Home About Us Disorders Glossary ... FAQs For Parents...................... General Information Genetics Overview Disorder Factsheets How to Obtain Screening For Professionals............ General Information Genetics Overview Disorder Factsheets Genetic Fact Sheets for Parents Amino Acid Disorders Disorder name: Tyrosinemia, type 1 Acronym: FAH deficiency What is tyrosinemia 1? What causes tyrosinemia 1? If tyrosinemia 1 is not treated, what problems occur? What is the treatment for tyrosinemia 1? ... Where can I find more information? This fact sheet has general information about tyrosinemia 1. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with this condition should be followed by a metabolic doctor in addition to their primary doctor. What is tyrosinemia 1? This condition is one type of amino acid disorder . People with tyrosinemia 1 have problems breaking down an amino acid called tyrosine from the food they eat. If not treated, the condition causes severe liver disease and other serious health problems.

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