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  1. Tyrosinemia
  2. Palmoplantar Keratodermas: Papillon-lefèvre Syndrome, Palmoplantar Keratoderma, Meleda Disease, Tyrosinemia Type Ii, Howel-evans Syndrome
  3. Tyrosinemia - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19
  4. Tyrosinemia: Webster's Timeline History, 1967 - 2007 by Icon Group International, 2010-06-11
  5. Dietary management of inherited metabolic disease: Phenylketonuria, galactosemia, tyrosinemia, homocystinuria, maple syrup urine disease by Phyllis B Acosta, 1976

1. Tyrosinemia
For all people interested in connecting with others with this disease.
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.
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2. NORD - National Organization For Rare Disorders, Inc.
Offers the synonyms, a general discussion and further resources.
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tyrosinemia,

3. EMedicine - Tyrosinemia : Article By Karl S Roth, MD
tyrosinemia Elevated blood tyrosine levels are present in several clinicalentities. The term tyrosinemia was first given to a clinical entity based on
http://www.emedicine.com/ped/topic2339.htm
(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health 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

4. Tyrosinemia
Reaching out and connecting tyrosinemia families throughout the world .. Purpose To allow a forum for families to share experiences and tips for
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Tyrosinemia
About one person in 100 000 is affected with tyrosinemia globally. HOW IStyrosinemia CAUSED? Tyrosine is an amino acid which is found in most animal and
http://www.liverkids.org.au/tyrosinemia.htm

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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?

6. Tyrosinemia
tyrosinemia Type I
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7. 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=

8. Tyrosinemia
hereditary tyrosinemia. Characteristics of tyrosinemia tyrosinemia is What causes tyrosinemia? And what happens in the body?
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Tyrosinemia
NORD/ Pediatrician s Guide tyrosinemia Type I Part 1 Joshua Holdnertyrosinemia Clinical Research Fund/NORD Liver LInks NTBC/Orfadin
http://groups.msn.com/tyrosinemia/nordpediatriciansguidetyrosinemiatypeipart2.ms
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 ... 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.

10. 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
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Tyrosinemia Management
tyrosinemiaI is a rare but devastating metabolic disorder that typically If tyrosinemia-I is unrecognized and untreated, affected infants will die from
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 typically 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, in Norway and in 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.

12. Tyrosinemia
tyrosinemia (TYRO) Type I, II III An Amino Acid Disorder. Save Babies Through Screening Foundation is comprised of volunteers.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Tyrosinemia
tyrosinemia is a hereditary genetic inborn error of the metabolism that The gene defect for tyrosinemia is an autosomal recessive genetic trait and is
http://www.savebabies.org/diseasedescriptions/tyrosinemia.php
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An Amino Acid Disorder Save Babies Through Screening Foundation is comprised of volunteers. Some have children who were helped by newborn screening, and some have children who have died, or suffered brain damage. For many of the Foundation's volunteers, joy comes from knowing that your child was saved. Many hours of hard work have been done to help children, maybe even yours. Please let us hear from you.
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.

14. Tyrosinemia Type 1
tyrosinemia type 1 Direct access to data Alias tyrosinemia type 1 Direct access to data Alias. Hepatorenal tyrosinemia
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15. Fumarylacetoacetate, The Metabolite Accumulating In Hereditary
Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic
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16. Tyrosinemia - Liver Health Information - The American Liver Foundation
Hereditary tyrosinemia is a genetic inborn error of metabolism associated Some children have a more chronic form of tyrosinemia with a gradual onset and
http://64.227.163.135/cgi-bin/dbs/articles.cgi?db=articles&uid=default&ID=1052&v

17. Tyrosinemia
Patients with tyrosinemia Type III develop neurologic problems, mental retardation and ataxia.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Tyrosinemia
Links to articles, information and resources for tyrosinemia.
http://rarediseases.about.com/cs/tyrosinemia/
zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb);
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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). MSN Groups: Tyrosinemia
Site offers message board, chat room, and links to information and resources.

19. TYROSINEMIA TYPE II REPORT OF THE FIRST FOUR CASES IN SAUDI ARABIA
tyrosinemia type II (oculocutaneous tyrosinemia) is an autosomal recessive disorder due to deficiency of tyrosine aminotransferase, an enzyme
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. Tyrosinemia Type I
Article describes tyrosinemia type I, its diagnosis, and treatment.
http://rarediseases.about.com/library/weekly/aa122202a.htm
zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Information by Disease Type Metabolic Disorders Tyrosinemia Type I Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb);
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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?

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