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Copyright 1987, 1988, 1990, 1992, 1994, 1995, 1996, 1999, 2000, 2002, 2003
Synonyms of Tyrosinemia, Hereditary
- Congenital tyrosinosis
- Fumarylacetoacetase deficiency
- Hepatorenal tyrosinemia
- Hereditary tyrosinemia type 1
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.
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Organizations related to Tyrosinemia, Hereditary
- American Liver Foundation
75 Maiden Lane
Suite 603
New York NY 10038
Phone #: 212-668-1000
800 #: 800-465-4837
e-mail: info@liverfoundation.org
Home page: http://www.liverfoundation.org
- Belgian Association for Metabolic Diseases (BOKS)
Alice Nahonlann 7
Melsele None 9120
Phone #: 323-775-4839
800 #: N/A
e-mail: info@boks.be
Home page: http://www.boks.be
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Children's Liver Alliance
None
None IN None
Phone #: N/A
800 #: --
e-mail: mail@liverkids.org.au
Home page: http://www.liverkids.org.au
- Cook for Love, Inc.
30 Seneca Street
Dobbs Ferry NY 10522
Phone #: 914-674-1025
800 #: N/A
e-mail: info@cookforlove.org
Home page: http://www.cookforlove.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Hereditary Tyrosinemia Group (Groupe Aide Aux Enfants Tyrosinemiques Du Quebec)
3162 rue Granville
Jonquiere
Quebec Intl G7S 2B9
Phone #: (41-8) -548-1580
800 #: --
e-mail: gerard.tremblay@sympatico.ca
Home page: http://www.cegep-chicoutimi.qc.ca/gaetq/
- Joshua's Cure
P.O. Box 1106
Cary NC 27511-1106
Phone #: (91-9) -567-1922
800 #: N/A
e-mail: mike@joshuascure.org
Home page: http://www.joshuascure.org
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: --
e-mail: NDDIC@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
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