Tyrosinemia, Hereditary / Disease

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: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.CLIMB.org.uk
Children's Liver Alliance
None
None IN None
Phone #: N/A
800 #: --
e-mail: m[email protected]
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: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.joshuascure.org
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
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: [email protected]
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: [email protected]
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