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         Tyrosinemia:     more detail
  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

61. Startplane /Health/Conditions_and_Diseases/Rare_Disorders/Tyrosinemia
tyrosinemia. See also Links. NORD tyrosinemia, Hereditary Offers the synonyms, a general discussion and further resources. National
http://www.startplane.com/Health/Conditions_and_Diseases/Rare_Disorders/Tyrosine
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  • NORD: Tyrosinemia, Hereditary - Offers the synonyms, a general discussion and further resources. National Library of Medicine - The synonyms of Tyrosinemia 11, a summary and major features. Pediatric Database - Offers a definition of Tyrosinemia-1, the epidemiology, pathogenesis, clinical features, investigations and management. Tyrosinemia - For all people interested in connecting with others with this disease. Tyrosinemia-11 - An in depth look at this disease from Pediatric Database including investigations and management.
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62. Disorders
TREATMENT MATERNAL PKU LATE DIAGNOSED PKU STORIES. tyrosinemia. There is a 1 in 4 risk that a child will have tyrosinemia if the parents carry the genes.
http://www.pku-allieddisorders.org/allieddisorders.htm
  • Homocystinuria MSUD Organic Acidemias Phenylketonuria Tyrosinemia Urea Cycle Disorders
All of the disorders listed above have a common thread. Each disorder is a metabolic disorder requiring a low protein diet along with strict medical supervision. Together we can make a difference as we reach out and across to one another For Links and support group information, Please click here For low protein recipes see this site:
www.lowprotein.com

Mansfield, MA 02048 Home Research Resources Disorders ... Disorders Homocystinuria Homocystinuria is a metabolic disorder caused by a defective enzyme (cystathionine synthetase) needed to digest the amino acid in protein called methionine. Once diagnosed, the initial treatment would be changing the baby formula to a special medical formula, which does not contain methionine. Along with the medical formula the child will maintain a low protein/low methionine diet for life. Some of the more dominant systems of HCU include mental retardation, ectopia lentis (dislocation of the lenses of the eye), osteoporosis, delays in reaching developmental milestones, the formation of blood clots that may lead to life-threatening complications.

63. Health - Conditions And Diseases - Rare Disorders - Tyrosinemia
Top Health Conditions and Diseases Rare Disorders tyrosinemia National Library of Medicine The synonyms of tyrosinemia 11, a summary and major features.
http://www.sedirectory.net/Health/Conditions_and_Diseases/Rare_Disorders/Tyrosin
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64. Conditions And Diseases: Rare Disorders: Tyrosinemia
Health and Home. tyrosinemia. management. http//www.icondata.com/health/pedbase/files/TYROSIN1.HTM. tyrosinemia. Last Update Mon May 10 2004.
http://www.health-home.net/Conditions_and_Diseases/Rare_Disorders/Tyrosinemia/
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Looking for something in particular? the entire directory only this category Home Conditions and Diseases Rare Disorders : Tyrosinemia LINKS:
  • National Library of Medicine
    The synonyms of Tyrosinemia 11, a summary and major features.
  • NORD: Tyrosinemia, Hereditary
    Offers the synonyms, a general discussion and further resources.
    http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tyrosinemia%2C%20Hereditary
  • Pediatric Database
    Offers a definition of Tyrosinemia-1, the epidemiology, pathogenesis, clinical features, investigations and management.
    http://www.icondata.com/health/pedbase/files/TYROSINE.HTM
  • Tyrosinemia
    For all people interested in connecting with others with this disease. http://groups.msn.com/tyrosinemia/
  • Tyrosinemia-11 An in depth look at this disease from Pediatric Database including investigations and management. http://www.icondata.com/health/pedbase/files/TYROSIN1.HTM
Tyrosinemia
Last Update: Mon May 10 2004

65. ORPHANET - Rare Diseases - Orphan Drugs
Printing version, DISEASE tyrosinemia type 2, Included disease(s) Keratosis palmoplantaris with corneal dystrophy Oculocutaneous tyrosinemia, ICD E70.2,
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=28378

66. Neuropathy: Childhood
Nonprogressive; Death at 3 months in 1 patient. tyrosinemia l Fumarylacetoacetase ; Chromosome 15q23-q25; Recessive Onset Neonatal Infantile;
http://www.neuro.wustl.edu/neuromuscular/time/child.html

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Axon Fabry's Vascular Perineurial Schwann cell, non-myelinating Niemann-Pick, Type 1

67. Tyrosinemia
Home Health Conditions and Diseases Rare Disorders tyrosinemia (6) tyrosinemia For all people interested in connecting with others with this disease.
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Directory Home Health Conditions and Diseases Rare Disorders : Tyrosinemia (6)
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68. :: Liver Diseases - Tyrosinemia Type-I ::
tyrosinemia TypeI An autosomal recessive disease. The incidence varies form 110000 to 1800 in different geographic areas. tyrosinemia
http://www.liverindia.com/tyrosinemia.htm
Types of Liver Diseases Tyrosinemia Type-I
Treatment
is aimed at dietary modification by avoiding Tyrosine, phenylalanine and methionine. A chemical NTBC has been tried to reduce liver injury by toxic metabolites. Dietary modification offers no protection against progression of liver disease and development of cancer. Good outcomes (up to 80%) have been reported after liver transplant for both acute and chronic forms of Tyrosinemia. However complete kidney recovery may not be achieved by liver transplantation SiteMap Login Contact Us ... Advertise Link
M.S.(Gen),FRCS(UK),M.D.(UK) and Fellow In Abdominal Transplantation(USA)
Sr. Consultant Surgeon and Head of Liver Transplantation (Indraprastha Apollo Hospital). Site developed,designed and maintained by E-Lagoon Softcom Solutions Pvt. Ltd.

69. Liver Syndrome Tyrosinemia (Neonatal Tyrosinemia)
tyrosinemia is an inborn metabolic disorder of the amino acid, tyrosine. Liver Disorders. Transplant Services Website. tyrosinemia (Neonatal tyrosinemia).
http://www.fairviewtransplant.org/liver/Tyrosinemia.asp

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The Transplant Center is a partnership of the following entities: Our liver transplant program is one of the world's oldest Liver Disorders Transplant Services Website Tyrosinemia (Neonatal tyrosinemia) Tyrosinemia is an inborn metabolic disorder of the amino acid, tyrosine. There are several types of tyrosinemia, the most common of which is type 1, also recognized as hereditary tyrosinemia or hepatorenal tyrosinemia. Type 1 is caused by a deficiency of fumarylacetoacetate hydrolase (FAH), a liver enzyme which breaks down tyrosine, resulting in increased levels of tyrosine in the blood and urine. Affecting major organs such as the kidney, liver and peripheral nerves, this condition is characterized by progressive liver failure and cirrhosis. Infants with type 1 may develop symptoms as early as two weeks of age or into the first year of life; symptoms include hypoglycemia, fever, hemorrhage, an enlarged liver, vomiting and a cabbage-like smell, signaling an acute hepatic crisis. Treatment includes a diet high in vitamin C and low in tyrosine and phenylalanine. In severe cases, a liver or kidney transplant is warranted.

70. Database Search Results
this database does not imply endorsement by the US Department of Health and Human Services.. Searched keywords for tyrosinemia.
http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Tyrosinemia

71. Yes Medical Information On Ailments, Personal And Family Health Matters - Yes Me
269). National Library of Medicine The synonyms of tyrosinemia 11, a summary and major features. NORD tyrosinemia, Hereditary
http://www.yes-medical.com/dir/pg/Health/Conditions_and_Diseases/Rare_Disorders/
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72. Atlas Tyrosinemia Tyrosinemie
Translate this page ATLAS DE PEDIATRIE. Tyrosinémie/tyrosinemia. INDEX. Tyrosinémie tyrosinemia, Photophobie - kératite dans la tyrosinémie taux excessifs de tyrosine.
http://www.icampus.ucl.ac.be/PEDIHEPA/document/pedihepa/atlas3.htm
ATLAS DE PEDIATRIE
INDEX Photophobia , keratitis related to high tyrosine levels Before NTBC treatment, cirrhotic evolution, with rickets, renal failure, hepatocarcinoma

73. SearchBug Directory: Health: Conditions_and_Diseases: Rare_Disorders: Tyrosinemi
Open Directory. Search tyrosinemia, tyrosinemia http//groups.msn.com/tyrosinemia/ For all people interested in connecting with others with this disease.
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Web Pages - ranked by popularity NORD: Tyrosinemia, Hereditary http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tyrosinemia%2C%20Hereditary Offers the synonyms, a general discussion and further resources. Pediatric Database http://www.icondata.com/health/pedbase/files/TYROSINE.HTM Offers a definition of Tyrosinemia-1, the epidemiology, pathogenesis, clinical features, investigations and management. Tyrosinemia-11 http://www.icondata.com/health/pedbase/files/TYROSIN1.HTM An in depth look at this disease from Pediatric Database including investigations and management. Tyrosinemia http://groups.msn.com/tyrosinemia/ For all people interested in connecting with others with this disease. National Library of Medicine The synonyms of Tyrosinemia 11, a summary and major features.
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74. NORD - Hereditary Tyrosinemia Type I
(NORD) Orfadin Patient Assistance Program. Condition or Disease, Hereditary tyrosinemia Type I. Phone number, 1-888-454-8860. What is covered, Orfadin (nitisinone).
http://www.pharmhelp.info/NORD-Tyrosinemia.html
National Organization for Rare Diseases, Inc. (NORD) - Orfadin Patient Assistance Program Condition or Disease Hereditary Tyrosinemia Type I Phone number What is covered Orfadin (nitisinone) Who is eligible Coverage is limited to individuals with Hereditary Tyrosinemia Type I. There is no income cap. Company uses financial means to determine level of assistance. Who must apply Patient and Physician / Licensed Practitioner Where to apply Please contact NovaFactor at 1-888-454-8860 for application and enrollment information. Link to organization website www.rarediseases.org Important notes Not Applicable

75. FDA Approves Orfadin (Nitisinone) For Hereditary Tyrosinemia Type
FDA Approves Orfadin (Nitisinone) For Hereditary tyrosinemia Type 1 BETHESDA, MD January 23, 2002 The US Food and Drug Administration (FDA) approved a
http://www.pslgroup.com/dg/21301e.htm

76. Tyrosinemia
tyrosinemia Type I affects approximately 150,000 to 1100,000 live births in the US. Due to an enzyme defect, blood and tissue
http://www.shsna.com/html/tyrosinemia.htm
Tyrosinemia There are several known disorders of tyrosine metabolism which are due to defects in enzymes metabolizing this particular amino acid.
Tyrosinemia Type I affects approximately 1:50,000 to 1:100,000 live births in the U.S.. Due to an enzyme defect, blood and tissue levels of the amino acids tyrosine and phenylalanine as well as related toxic metabolites are elevated. The disease is characterized by severe impairment of liver and renal tubular function, failure to thrive, rickets, cataracts, hypertension, and peripheral nerve deficiencies. Mental retardation may occur. If untreated, tyrosinemia may lead to progressive liver, renal, and brain damage and often fatal pathogenesis. Tyrosinemia Type II is a rare metabolic disorder caused by a defect of another enzyme responsible for the tyrosine metabolism. Blood and tissue levels of tyrosine are elevated and the excretion of phenolic acids is increased. Untreated children suffer from skin lesions on the fingers, palms of the hands, and soles of the feet; corneal erosions have been reported. Mental retardation often occurs. If diagnosed and treated during infancy, these symptoms may be prevented and the disorder may be managed by diet. Dietary treatment for both types consists of a diet restricted in tyrosine and phenylalanine. Type I also requires monitoring of methionine. Such a diet restricts all foods high in protein (meat, dairy, fish, poultry, etc.) and includes prescribed amounts of low protein medical foods, low protein cereals, fruits, and vegetables. Without additional calories, nutrients, and essential and non-essential amino acids (excluding tyrosine, phenylalanine and where necessary methionine), the patient would experience malnutrition. Therefore, an important part of the patient's daily intake must come from a medical food lacking the mentioned amino acids, but containing all other nutrients and essential and non-essential amino acids.

77. Tyrosinemia Rare Disorders Conditions And Diseases Health
tyrosine. English Health Conditions and Diseases Rare Disorders tyrosinemia. tyrosine. Conditions and Diseases Rare Disorders tyrosinemia
http://www.interactiva.org/Dir/I/English/Health/Conditions_and_Diseases/Rare_Dis
www.interactiva.org English Deutsch Espa±ol ... Tyrosinemia Tyrosinemia English Health Conditions and Diseases: Genetic Disorders
English Health Conditions and Diseases: Nutrition and Metabolism Disorders
National Library of Medicine

Conditions and Diseases Rare Disorders Tyrosinemia.
The synonyms of Tyrosinemia 11 ( National Library of Medicine ) a summary and major features.
NORD: Tyrosinemia, Hereditary

www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tyrosinemia%2C%20Hereditary

Conditions and Diseases Rare Disorders Tyrosinemia.
Offers the synonyms ( NORD: Tyrosinemia, Hereditary ) a general discussion and further resources.
Tyrosinemia-11

www.icondata.com/health/pedbase/files/TYROSIN1.HTM
Conditions and Diseases Rare Disorders Tyrosinemia. An in depth look at this disease from Pediatric Database including investigations and management. Pediatric Database www.icondata.com/health/pedbase/files/TYROSINE.HTM Conditions and Diseases Rare Disorders Tyrosinemia. Offers a definition of Tyrosinemia-1 ( Pediatric Database ) the epidemiology, pathogenesis, clinical features, investigations and management. Tyrosinemia groups.msn.com/tyrosinemia/

78. NEJM -- Neurologic Crises In Hereditary Tyrosinemia
Original Article from The New England Journal of Medicine Neurologic crises in hereditary tyrosinemia.
http://content.nejm.org/cgi/content/abstract/322/7/432
HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 322:432-437 February 15, 1990 Number 7 Next Neurologic crises in hereditary tyrosinemia
G Mitchell, J Larochelle, M Lambert, J Michaud, A Grenier, H Ogier, M Gauthier, J Lacroix, M Vanasse, A Larbrisseau, and et al.
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Source Information Department of Genetics, Hopital Sainte Justine, Montreal, PQ, Canada.
This article has been cited by other articles:
  • Grompe, M., St.-Louis, M., Demers, S. I., Al-Dhalimy, M., Leclerc, B., Tanguay, R. M. (1994). A Single Mutation of the Fumarylacetoacetate Hydrolase Gene in French Canadians with Hereditary Tyrosinemia Type I. N Engl J Med [Abstract] [Full Text]
  • Bateman, R. L., Bhanumoorthy, P., Witte, J. F., McClard, R. W., Grompe, M., Timm, D. E. (2001). Mechanistic Inferences from the Crystal Structure of Fumarylacetoacetate Hydrolase with a Bound Phosphorus-based Inhibitor. J. Biol. Chem.

79. Alexa Web Search - Subjects > Health > Conditions And Diseases > Rare Disorders
Sort by Most Popular. National Library of Medicine The synonyms of tyrosinemia 11, a summary and major features. Avg.
http://www.alexa.com/browse/general?catid=558311&mode=general

80. Mouse Models For The Human Disease Of Chronic Hereditary Tyrosinemia
Mouse models for the human disease of chronic hereditary tyrosinemia. ORNL researchers found that a nearby gene that is also knocked
http://www.eurekalert.org/features/doe/2001-06/drnl-mmf061802.php

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Mouse models for the human disease of chronic hereditary tyrosinemia
ORNL researchers found that a nearby gene that is also knocked out by irradiation causes chronic hereditary tyrosinemia in mice, a disease that also afflicts humans. Patients with this disease can develop a wide range of liver and kidney problems, as well as problems affecting the eye, the skin of the feet and hands, and the central nervous system. Using the powerful mutagen ENU to alter a single DNA base pair in this gene, ORNL biologists recently produced two mouse models that more closely mimic the gene mutation that causes chronic hereditary tyrosinemia in humans. Normal mice and people metabolize tyrosine, an amino acid available in food, to make melanin, a type of pigment produced in large amounts by dark-skinned people. But people and mice with the disease lack a normally functioning protein (enzyme) to carry out one step of the tyrosine metabolism process, which involves a series of enzymes. So, unless people with this disease are put on a special tyrosine-free diet, a substance that is not broken down because of the absence of a normally functioning enzyme will build up to toxic levels in the liver and kidneys, a fatal condition in mice. By sequencing the same chromosomal region from both normal and abnormal mice and comparing the sequences, ORNL biologists identified new mouse models that carry mutations in this enzyme in the tyrosine breakdown pathway. "Mice with this disease die of poisoned livers," says ORNL biologist Dabney Johnson. "A by-product of the botched metabolism process is succinyl acetone, which accumulates in the liver and is excreted in urine where it serves as a diagnostic indicator of the disease.

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