Diseases & Conditions


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Tyrosinemia, Hereditary


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
    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
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: info@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
  • Hereditary Tyrosinemia Group (Groupe Aide Aux Enfants Tyrosinemiques Du Quebec)
    3162 rue Granville
    Quebec Intl G7S 2B9
    Phone #: 418- 54-8-1580
    800 #: --
    e-mail: gerard.tremblay@sympatico.ca
    Home page: http://www.cegep-chicoutimi.qc.ca/gaetq/
  • Joshua's Cure
    None
    None None None
    Phone #: 919--56-7-1922
    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 #: 914-428-7100
    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
    Bethesda MD 20892-3570
    Phone #: 301-654-3810
    800 #: --
    e-mail: NDDIC@info.niddk.nih.gov
    Home page: http://www.niddk.nih.gov



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