1. Tyrosinemia Information about tyrosinemia, a rare metabolic disorder. Includes lists of links to other support Category Health Conditions and Diseases Rare Disorders tyrosinemia......Reaching out and connecting tyrosinemia families throughout the world ..Purpose To allow a forum for families to share experiences http://groups.msn.com/tyrosinemia

MSN Home My MSN Hotmail Search ... Money Groups tyrosinemia tyrosinemia@groups.msn.com Groups Home My Groups Language Help ... Tools SPONSORED SITES: 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 Hey everyone! I haven't been on in a while. I've been in school. I see on the picture book that I'm the oldest. I've had this dis... Baby Mink NORD research fund/booklet Trina asked about the tyrosinemia research fund and booklet. Check out the tyrosinemia group website and it includes: NORD's Pediatrician's Guide to Tyrosinemia N...

2. Tyrosinemia-11 liver and renal functions are not affected. in tyrosinemiaI, the damage is not done by the build-up of tyrosine but by http://www.icondata.com/health/pedbase/files/TYROSIN1.HTM

Pediatric Database (PEDBASE) Discipline: MET Last Updated: 9/28/93 TYROSINEMIA-II DEFINITION: A disorder of tyrosine metabolism characterized by the build-up of tyrosine resulting in oculocutaneous lesions. EPIDEMIOLOGY: incidence: rare age of onset: first few months of life risk factors: familial - autosomal recessive chrom.#: 16q22.1-q22.3 gene: tyrosine aminotransferase (TAT) PATHOGENESIS: 1. Background tyrosine aminotransferase (TAT): rate limiting enzyme in tyrosine metabolism found predominantly in the liver transaminates tyrosine to p-OH-phenylpyruvic acid disorder first described in 1938 and connection to tyrosine metabolism established in 1973 2. Genetic Defect tyrosine levels in the plasma and tissues excede saturation liver and renal functions are not affected in Tyrosinemia-I, the damage is not done by the build-up of tyrosine but by its metabolites while in Tyrosinemia-II, the damage is done by tyrosine directly CLINICAL FEATURES: 1. Ocular Manifestations appear during the first few months of life: lacrimation, photophobia, redness

3. Tyrosinemia Some tyrosinemia links Look at these for the variety they represent http://communities.msn.com/tyrosinemia/home.htm

MSN Home My MSN Hotmail Search ... Money Groups tyrosinemia tyrosinemia@groups.msn.com Groups Home My Groups Language Help ... Tools SPONSORED SITES: 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 Hey everyone! I haven't been on in a while. I've been in school. I see on the picture book that I'm the oldest. I've had this dis... Baby Mink NORD research fund/booklet Trina asked about the tyrosinemia research fund and booklet. Check out the tyrosinemia group website and it includes: NORD's Pediatrician's Guide to Tyrosinemia N...

4. TYROSINEMIA-I Offers a definition of tyrosinemia-1, the epidemiology, pathogenesis, clinical features, investigations Category Health Conditions and Diseases Rare Disorders tyrosinemia......Pediatric Database (PEDBASE); Discipline MET; Last Updated 5/18/94 tyrosinemiaI.DEFINITION INVESTIGATIONS 1. tyrosinemia. 1. Diagnostic. http://www.icondata.com/health/pedbase/files/TYROSINE.HTM

Pediatric Database (PEDBASE) Discipline: MET Last Updated: 5/18/94 TYROSINEMIA-I DEFINITION: A disorder of tyrosine metabolsim characterized by the build-up of tyrosine and its metabolites resulting in hepatic and renal damage. EPIDEMIOLOGY: incidence: rare (about 100 cases worldwide) age of onset: first 6 months of life (acute form); after 1 year (chronic form) risk factors: familial - autosomal recessive chrom.#: 15q23-q25 gene: fumarylacetoacetate hydrolase (FAH) French-Canadian population 146/100,000 live births F = M PATHOGENESIS: 1. Background FAH is an enzyme consisting of two subunits metabolism of tyrosine to CO2 and H2O occurs in about 6 steps FAH catalyzes the final step where fumarylacetoacetic acid is broken down into fumaric acid and acetoacetic acid a deficiency in FAH will therefore result in the accumulation of fumarylacetoacetic acid which is subsequently metabolized to succinylacetoacetic acid and succinylacetone 2. Genetic Defect succinylacetone is structurally similar to maleic acid which is a known inhibitor of renal tubular function and may cause the renal tubular abnormality (i.e., Fanconi Syndrome) succinylacetone may also inhibit porphobilinogen synthetase which results in the accumulation of aminolevulinic acid and symptoms of acute intermittent porphyria two forms exist and it appears that the degree of residual FAH activity determines whether or not the disease will be acute or chronic: 1. Acute Form

5. EMedicine - Tyrosinemia : Article By Karl S Roth, MD RichnerHanhart syndrome, transient tyrosinemia of the newborn, TTN, tyrosinemia I, tyrosinemia II, tyrosinemia III 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: May 21, 2002 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 ... Sigma Xi , 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;

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: March 28, 2003 at 3:28:09 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 CLF Regional Offices. tyrosinemia. What is tyrosinemia? Hereditary tyrosinemia is a genetic inborn error of metabolism http://www.liverkids.org.au/ftyrosinemia.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?

8. NORD - Tyrosinemia, Hereditary Offers the synonyms, a general discussion and further resources. http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu

9. Tyrosinemia tyrosinemia, tyrosinemia@groups.msn.com, Groups Home, , My Groups, , Language, , Help. tyrosinemia Websites. NORD/ Pediatrician's Guide tyrosinemia Type I Part1. http://groups.msn.com/tyrosinemia/pictures

MSN Home My MSN Hotmail Search ... Money Groups tyrosinemia tyrosinemia@groups.msn.com Groups Home My Groups Language Help ... Tools Pictures show photos (Empty) Create a new album My Storage Antonio His second Birthday 4 Photos Add Photos Tyrosinemia Family Album Pictures of the Tyrosinemia Family 6 Photos debbie Add Photos Notice: Microsoft has no responsibility for the content featured in this Group. Click here for more info. MSN - More Useful Everyday MSN Home My MSN ... GetNetWise

10. 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=

11. Katalog - Wirtualna Polska Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Rare_Disorders/Tyrosine

Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Conditions and Diseases > Rare Disorders Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane NAWIGACJA Fakty o katalogu Pomoc Regulamin Serwis Szukaj ... FAQ Dodaj stronê Katalog WP Polskie Strony WWW Oferta dla firm WP-HIT ... Wirtualna Polska

12. Tyrosinemia Management tyrosinemia Background tyrosinemiaI is a rare but devastating metabolic disorderthat 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.

13. Tyrosinemia tyrosinemia type I is a rare genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate http://groups.msn.com/tyrosinemia/nordpediatriciansguidetyrosinemiatypeipart2.ms

MSN Home My MSN Hotmail Search ... Money Groups tyrosinemia tyrosinemia@groups.msn.com Groups Home My Groups Language Help ... Tools The Pediatrician’s Guide to Tyrosinemia Type I What is tyrosinemia type I? 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, resulting in severe liver disease. Metabolic diseases are disorders that affect the body’s ability to perform certain chemical processes such as turning food into energy or recycling waste from dead cells. Many metabolic disorders do not have noticeable signs or symptoms at birth, but can eventually cause serious physical problems if not detected and treated early. There are several types of tyrosinemia (types I, II, and III, as well as a transient form that disappears spontaneously). This booklet describes type 1, which is the most severe form.

14. 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.

15. Tyrosinemia SEARCH OUR SITE. tyrosinemia (TYRO) Type I, II III An Amino Acid Disorder. Studiesshow that 1 of every 100,000 live births will have tyrosinemia. http://www.savebabies.org/diseasedescriptions/tyrosinemia.htm

HOME Newborn Screening Information Find out what your state screens for, answers to frequently asked questions, and much more. Disease Descriptions Read a short description of each of the over 55 disease currently detectable through newborn screening. Family Stories Meet the families behind the statistics Promoting Screening Tips for promoting screening awareness. Awareness Projects Learn about the numerous grass-roots projects to help raise the awareness of newborn screening. Resource Library Locate numerous newborn screening related medical articles, awareness materials, research participation forms, and much more. Event Calendar Find a listing on Newborn screening related events. Fundraising Activities Help raise much needed funds by hosting or participating in a fundraising event. Other Sites of Interest Find a listing of other newborn screening related websites. SEARCH OUR SITE An Amino Acid Disorder What is it?

16. Tyrosinemia tyrosinemia. Test. Pathology. Neonatal tyrosinemia and increased excretionof 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.

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

18. Hereditary Tyrosinemia tyrosinemia can be caused by several conditions, including hereditarydiseases of tyrosine catabolism. The two most common inborn http://www.csmd.ca/tyrosinemia.htm

Hereditary Tyrosinemia Home Up Phenylketonuria Galactosemia ... Organic Acidemias [ Hereditary Tyrosinemia ] Tyrosinemia can be caused by several conditions, including hereditary diseases of tyrosine catabolism. The two most common inborn errors of tyrosine catabolism are Hepatorenal Tyrosinemia (Tyrosinemia Type I) and Oculocutaneous Tyrosinemia (Tyrosinemia Type II); these two diseases are clinically quite different. Type I Tyrosinemia can result in a wide range of liver and kidney problems. In Type II Tyrosinemia, the symptoms are painful thickening of the cornea, hyperkeratosis of the palms and soles, and in some cases mental impairment. The dietary management of patients with either condition centres on restriction of phenylalanine and tyrosine, the precursor amino acids of the abnormal metabolic pathway. http://communities.msn.com/tyrosinemia/home.htm - a website containing links to further resources on all types of Tyrosinemia. Return to " How many are there? "

19. Tyrosinemia Some tyrosinemia links. Look at these for the variety they represent AmericanLiver Foundation. Children's Liver Alliance tyrosinemia links. http://acadprojwww.wlu.edu/vol4/BlackmerH/public_html/xliberty/chem/tyro.html

20. Health Care Professionals' Guide To Newborn Screening - Tyrosinemia tyrosinemia. Treatment The treatment for tyrosinemia is the dietary restrictionof phenylalanine, methionine, tyrosine and administration of the drug NTBC. http://www.slh.wisc.edu/newborn/guide/tyrosinemia.shtml

Tyrosinemia 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: None 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 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, 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:

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