Tyrosinemia, Hereditary

Important
It is possible that the main title of the report Tyrosinemia, Hereditaryis not the name you expected.

Synonyms

Hepatorenal tyrosinemia
Hereditary tyrosinemia type 1
Fumarylacetoacetase deficiency
Congenital tyrosinosis

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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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe
Intl
CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
info@climb.org.uk
http://www.CLIMB.org.uk

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

Children's Liver Alliance
IN
mail@liverkids.org.au
http://www.liverkids.org.au

American Liver Foundation
75 Maiden Lane
Suite 603
New York
NY
10038
USA
Tel: (212)668-1000
Fax: (212)483-8179
800: (800)465-4837
info@liverfoundation.org
http://www.liverfoundation.org

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda
MD
20892-3570
Tel: (301)654-3810
Fax: (301)496-7422
NDDIC@info.niddk.nih.gov
http://www.niddk.nih.gov

Hereditary Tyrosinemia Group (Groupe Aide Aux Enfants Tyrosinemiques Du Quebec)
3162 rue Granville
Jonquiere
Quebec
Intl
G7S 2B9
Canada
Tel: 418 548-1580
gerard.tremblay@sympatico.ca
http://www.cegep-chicoutimi.qc.ca/gaetq/

Belgian Association for Metabolic Diseases (BOKS)
Alice Nahonlann 7
Melsele
9120
Belgium
Tel: 3237754839
info@boks.be
http://www.boks.be

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 5/28/2008
Copyright 1987, 1988, 1990, 1992, 1994, 1995, 1996, 1999, 2000, 2002, 2003 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: May 28, 2008

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