Tyrosinemia Type 1

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Tyrosinemia Type 1 is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • FAH deficiency
  • fumarylacetoacetase deficiency
  • fumarylacetoacetate hydrolase deficiency
  • hepatorenal tyrosinemia
  • hereditary tyrosinemia type 1

Disorder Subdivisions

  • None

General Discussion

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.

Supporting Organizations

American Liver Foundation

39 Broadway, Suite 2700
New York, NY 10006
USA
Fax: (212)483-8179
Tel: (800)465-4837
Email: http://www.liverfoundation.org/contact/
Website: http://www.liverfoundation.org

Belgian Association for Metabolic Diseases

Alice Nahonlann 7
Melsele, 9120
Belgium
Tel: 498701503
Fax: 37754839
Email: info@boks.be
Website: http://www.boks.be/site/index.php/

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Website: http://www.CLIMB.org.uk

Cook for Love, Inc.

30 Seneca Street
Dobbs Ferry, NY 10522
Tel: (914)674-1025
Email: info@cookforlove.org
Website: http://www.cookforlove.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Hereditary Tyrosinemia Group (Groupe Aide Aux Enfants Tyrosinemiques Du Quebec)

3162 rue Granville
Jonquiere
Quebec, G7S 2B9
Canada
Tel: 4185481580
Email: gerard.tremblay@sympatico.ca
Website: http://www.cegep-chicoutimi.qc.ca/gaetq/

Joshua's Cure

P.O. Box 1106
Cary, NC 27511-1106
Tel: (919) 567-1922
Email: mike@joshuascure.org
Website: http://www.joshuascure.org

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Website: http://www.marchofdimes.com

NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison
Bldg 31, Rm 9A06
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Website: http://www2.niddk.nih.gov/

Save Babies Through Screening Foundation

P.O. Box 42197
Cincinnati, OH 45242
USA
Tel: (610)251-9876
Fax: (610)647-5757
Tel: (888)454-3383
Email: email@savebabies.org
Website: http://www.savebabies.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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.

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Last Updated:  12/22/1969
Copyright  2010 National Organization for Rare Disorders, Inc.