21. CLF : Tyrosinemia tyrosinemia What is tyrosinemia? Hereditary tyrosinemia is a genetic inborn error of metabolism associated with severe liver disease in infancy. http://www.liver.ca/english/liverdisease/tyrosenemia.html

CLF Regional Offices Find a Location BC/Yukon Alberta Saskatchewan Manitoba GTA S.W. Ontario Central Ontario S.E. Ontario Quebec Atlantic Can. TYROSINEMIA 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. However, the disease is particularly common in the region of Saguenay-Lac-St-Jean, Quebec where one person in 20 is a carrier of the defective gene, and one person in 1,846 is affected with the actual disease. 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.

22. Tyrosinemia (Transient Tyrosinemia Of The Newborn, Tyrosyluria) tyrosinemia (Transient tyrosinemia of the Newborn, Tyrosyluria). tyrosinemia; tyrosinemia; Transient tyrosinemia Of The Newborn; Oculocutaneous Type See tyrosinemia http://www.bdid.com/tyrosinemia.htm

HOME Tyrosinemia (Transient Tyrosinemia of the Newborn, Tyrosyluria) Tyrosinemia Tyrosinemia Transient Tyrosinemia Of The Newborn Oculocutaneous Type See Tyrosinemia, Type II Oregon Type See Tyrosinemia, Type II Type I Short description of cell lines. Pathology: tyrosinemia, type I In vivosuppressor mutations correct liver disease in a murine model of Hereditary Tyrosinemia type I Tyrosinemia-I Fumarylacetoacetase deficiency Type II/Oculocutaneous Type/Oregon Type (Richner Hanhart Syndrome; Tyrosine Transaminase Deficiency; Tyrosinosis, Oculocutaneous Type) Keratosis palmoplantaris with corneal dystrophy TYROSINEMIA TYPE II: REPORT OF THE FIRST FOUR CASES IN SAUDI ARABIA Tyrosinemia-II TYROSINE TRANSAMINASE DEFICIENCY ... HOME

23. Tyrosinemia, Hereditary tyrosinemia, Hereditary Important It is possible that the main title of the report tyrosinemia, Hereditary is not the name you expected. 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 Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic 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.

24. Tyrosinemia Groupe Aide Aux Enfants Tyrosinemiques du Quebec. tyrosinemia Groupe Aide Aux Enfants Tyrosinemiques du Quebec Model. One group in Quebec. Founded 1989. 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 Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic 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

25. Tyrosinemia Search. Rare / Orphan Diseases, tyrosinemia Guide picks. tyrosinemia Type I Article describes the disorder, its symptoms, diagnosis, and treatment. http://rarediseases.about.com/cs/tyrosinemia/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Home Essentials ... 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); Stay Current 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 Tyrosinemia Guide picks A metabolic disorder in which the amino acid tyrosine accumulates in the body and causes damage. Tyrosinemia Type I Article describes the disorder, its symptoms, diagnosis, and treatment. From the About.com Guide to Rare/Orphan Diseases. American Liver Foundation: Tyrosinemia Medical information on the disorder. NORD: Hereditary Tyrosinemia Concise definition of the disorder from the National Organization for Rare Disorders (U.S.). La Tyrosinémie Groupe aide aux enfants Tyrosinémiques du Québec offert beaucoup d'information en francais. Tyrosinemia Information from the Children's Liver Alliance (Australia).

26. Tyrosinemia Type I tyrosinemia Type I. What is it? tyrosinemia type I is a metabolic disorder in which an enzyme critical for the breakdown of the amino acid tyrosine is missing. http://rarediseases.about.com/library/weekly/aa122202a.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Home Essentials ... 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); Stay Current 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 Tyrosinemia Type I No longer an untreatable disorder Related Resources Internet links on tyrosinemia type I Elsewhere on the Web American Liver Foundation: Tyrosinemia Children's Liver Alliance: Tyrosinemia Mary Kugler, MSN, RN,BC Guide to Rare/Orphan Diseases What is it? Tyrosinemia type I is a metabolic disorder in which an enzyme critical for the breakdown of the amino acid tyrosine is missing. This allows abnormal amounts of tyrosine to accumulate in the body and act like a poison causing damage, especially in the liver. Who gets it?

27. Disease Directory : Rare Disorders : Tyrosinemia tyrosinemia Page 1. 02/03 NBS 2000 140 11. tyrosinemia 11.0 Introduction Screening for tyrosinemia is now formally included in only a few screening programs. http://www.diseasedirectory.net/Rare_Disorders/Tyrosinemia/default.aspx

Wednesday, June 02, 2004 Rare Disorders Agnosia Aicardi Syndrome Alstrom Syndrome ... Rare Disorders : Tyrosinemia 11. Tyrosinemia - Page 1. 02/03 NBS 2000 140 11. Tyrosinemia 11.0 Introduction Screening for tyrosinemia is now formally included in only a few screening programs. 11. Tyrosinemia - Page 1. 7/02 NBS99 140 11. Tyrosinemia 11.0 Introduction Screening for tyrosinemia is now formally included in only a few screening programs. Conditions and Diseases - Tyrosinemia Top Links - Tyrosinemia Web Site Links. NORD - Tyrosinemia, Hereditary - Offers the synonyms, a general discussion and further resources. Pediatric Geometry.Net - Health_Conditions: Tyrosinemia - Tyrosinemia Information about tyrosinemia, a rare metabolic disorder. This is the place for all people interested in connecting with others with Tyrosinemia. Hereditary Tyrosinemia - The two most common inborn errors of tyrosine catabolism are hepatorenal tyrosinemia (tyrosinemia type I) and oculocutaneous tyrosinemia (tyrosinemia type II). National Library of Medicine - The synonyms of Tyrosinemia 11, a summary and major features.

28. Disease Directory : Tyrosinemia Diseases Rare Disorders tyrosinemia tyrosinemia. Directory Listing. Submit Your Site to the tyrosinemia category. Featured Partner. http://www.diseasedirectory.net/detailed/27657.aspx

Wednesday, June 02, 2004 Rare Disorders Agnosia Aicardi Syndrome Alstrom Syndrome ... Tyrosinemia : Tyrosinemia Directory Listing Title: Tyrosinemia Description: Date Added: 2/17/2004 5:35:36 PM URL: http://www.iseekhealth.com/tyrosinemia-2211.php

29. TIROSINEMIA Translate this page Bibliografía. Bergeron P, Laberge C, Grenier A. Hereditary tyrosinemia in the province of Quebec prevalence at birth and geographic distribution. Clin Genet. http://www.geocities.com/HotSprings/Villa/1333/marl2.htm

TIROSINEMIA Dr. Manuel A. Rodriguez Lanza Residente del postgrado de Pediatría, Hospital Militar "Dr. Carlos Arvelo", Departamento de Pediatría e-mail: marl1@hotmail.com Palabras claves: tirosinemia, errores innatos del metabolismo. Key Words: tyrosinemia, inborn errors of metabolism La tirosinemia es un error innato del metabolismo que muestra niveles elevados de tirosina. Existen tres tipos: tirosinemia neonatal tirosinemia tipo I (tirosinosis) tirosinemia tipo II (sindrome de Richner-Hanhart) Incidencia Tirosinemia tipo I: En USA: en 1991: 1/47000 nacidos vivos. En Canada: en Quebec:1/12500 en Lac-St Jean de Quebec: 1/685 En Suecia: En Noruega: En Bélgica: Tirosinemia tipo II No ha sido bien establecida. Genética Localización cromosómica: Fumarilacetoacetasa hidrolasa (FAH): 15q23-q25 (tirosinemia tipo I) Tirosina aminotransferasa (TAT): 16q22-q24 (tirosinemia tipo II) Herencia: Autosómico recesivo. Varones=Hembras. Variabilidad étnica y racial: Mayormente en raza blanca.

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

document.write(''); var hwPrint=1; var hwDocHWID="nord446"; var hwDocTitle="Tyrosinemia, Hereditary"; var hwRank="1"; var hwSectionHWID="nord446"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Tyrosinemia, Hereditary Important It is possible that the main title of the report 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 Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Acute intermittent porphyria Galactosemia Hereditary fructose intolerance 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.

31. Tyrosinemia (Bilingual) Provides support and information for parents of children with tyrosinemia type I (aka tyrosinemia. Groupe Aide Aux Enfants Tyrosinemiques du Quebec. http://www.bchealthguide.org/kbase/shc/shc29tyr.htm

document.write(''); var hwPrint=1; var hwDocHWID="shc29tyr"; var hwDocTitle="Tyrosinemia"; var hwRank="1"; var hwSectionHWID="shc29tyr"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="SHC"; Self Help Clearinghouse 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 WEBSITE: http://www.cegep-chicoutimi.qc.ca/gaetq VERIFIED: 3/18/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

32. Biochemical Genetics Clinic - University Of Washington, Seattle - Tyrosinemia The University of Washington Biochemical Genetics Clinic web site provides resources to families of children with tyrosinemia and professionals who work with http://depts.washington.edu/tyros/

Recipe Archive Clinic-tested Recipes.. Updated January 7, 2004 The University of Washington Biochemical Genetics Clinic team has designed this site to provide resources to families of children with tyrosinemia, type 1 and professionals who work with children with tyrosinemia. This website is not intended to replace individualized medical advice.

33. Biochemical Genetics Clinic - University Of Washington, Seattle - Tyrosinemia About tyrosinemia. tyrosinemia type 1 be prevented. The treatment for tyrosinemia consists of a medication and special diet The 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

34. Newborn Screening Program - Tyrosinemia tyrosinemia. Definition. The tyrosinemias Newborn screening in Illinois includes testing for the following type of tyrosinemia tyrosinemia type 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, that 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) 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. 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.

35. Tyrosinemia tyrosinemia. tyrosinemia Reaching out and connecting tyrosinemia families throughout the world .. Purpose tyrosinemia. tyrosinemia-11 - http://www.health-nexus.com/tyrosinemia.htm

Health-Nexus.Net Health-Nexus.Org The #1 Health information site 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...

36. Tyrosinemia Definition Of Tyrosinemia. What Is Tyrosinemia? Meaning Of Tyrosinem Definition of tyrosinemia in the Dictionary and Thesaurus. Provides examples from classic literature, search by definition of tyrosinemia. http://www.thefreedictionary.com/tyrosinemia

Dictionaries: General Computing Medical Legal Encyclopedia tyrosinemia Word: Word Starts with Ends with Definition 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 Legend: Synonyms Related Words Antonyms Some words with "tyrosinemia" in the definition: autosomal recessive defect autosomal recessive disease Previous General Dictionary Browser Next tyrocidine Tyrociny Tyrol ... Tything Full Dictionary Browser Tyrone Township, Livingston County, Michigan (enc.) Tyrone Township, Livingston, Michigan (enc.) Tyrone Township, Michigan (enc.) Tyrone Township, Minnesota (enc.) Tyrone Township, Pennsylvania (enc.) Tyrone Township, Perry County, Pennsylvania (enc.) Tyrone, Georgia (enc.) Tyrone, New York (enc.) Tyrone, Oklahoma (enc.) Tyrone, Pennsylvania (enc.) Tyronia (enc.) Tyronism Tyronza, Arkansas (enc.) Tyropoeon Valley (enc.)

37. Tyrosinemia - Medical Dictionary Definitions Of Popular Medical Terms tyrosinemia A genetic disorder involving the metabolism of the amino acid tyrosine characterized by abnormally high levels of tyrosine in blood http://www.medterms.com/script/main/art.asp?articlekey=21238

38. Tyrosinemia Type I - Medical Dictionary Definitions Of Popular Medical Terms MedicineNet Home MedTerms medical dictionary AZ List tyrosinemia type I. Advanced Search. tyrosinemia type I is inherited as an autosomal recessive disorder. http://www.medterms.com/script/main/art.asp?articlekey=30897

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

40. Entrez PubMed The metabolic basis of the hyperphenylalaninemias and tyrosinemia Article in tyrosinemia II has mental retardation, palmar hyperkeratosis and corneal ulcers. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

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