Tyrosinemia Type 1
National Organization for Rare Disorders, Inc.
- FAH deficiency
- hepatorenal tyrosinemia
- hereditary tyrosinemia type 1
- fumarylacetoacetase deficiency
- fumarylacetoacetate hydrolase deficiency
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Hereditary Tyrosinemia Group (Groupe Aide Aux Enfants Tyrosinemiques Du Quebec)
3162 rue Granville
Quebec, G7S 2B9
Save Babies Through Screening Foundation
P.O. Box 42197
Cincinnati, OH 45242
Belgian Association for Metabolic Diseases
Alice Nahonlann 7
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
P.O. Box 1106
Cary, NC 27511-1106
Tel: (919) 567-1922
Cook for Love, Inc.
30 Seneca Street
Dobbs Ferry, NY 10522
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Last Updated: 5/10/2010
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