Tyrosinemia Type 1
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Tyrosinemia Type 1 is not the name you expected.
Tyrosinemia type I is a rare autosomal recessive genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed for the final break down of 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 appear in the first months of life and 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, cirrhosis, and hepatocarcinoma if left untreated. Treatment with nitisinone and a low-tyrosine diet should begin as soon as possible after the diagnosis is confirmed.
American Liver Foundation
- 39 Broadway, Suite 2700
- New York, NY 10006
- Fax: (212)483-8179
- Tel: (800)465-4837
- Email: http://www.liverfoundation.org/contact/
- Website: http://www.liverfoundation.org
Belgian Association for Metabolic Diseases
- Floralaan 35A
- Beveren, 9120
- Tel: 03 775 48 39
- Fax: 03 775 48 39
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- Website: http://www.boks.be/
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
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- Fax: 4408452412174
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- Website: http://www.CLIMB.org.uk
Cook for Love, Inc.
- 30 Seneca Street
- Dobbs Ferry, NY 10522
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- Website: http://www.cookforlove.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
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- Fax: (301)251-4911
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Hereditary Tyrosinemia Group (Groupe Aide Aux Enfants Tyrosinemiques Du Quebec)
- 3162 rue Granville
- Quebec, G7S 2B9
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- Website: http://www.cegep-chicoutimi.qc.ca/gaetq/
March of Dimes
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- White Plains, NY 10605
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- Website: http://www.marchofdimes.org and nacersano.org
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
- Office of Communications & Public Liaison
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- Email: NDDIC@info.niddk.nih.gov
- Website: http://www2.niddk.nih.gov/
Save Babies Through Screening Foundation
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- Cincinnati, OH 45242
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 5/10/2010
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