Tyrosinemia type 2

Common Name(s)

Tyrosinemia type 2

Tyrosinemia type 2 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme tyrosine aminotransferase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the TAT gene. This form of the disorder can affect the eyes, skin, and mental development. Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles. About 50 percent of individuals with tyrosinemia type 2 have some degree of intellectual disability. This condition is inherited in an autosomal recessive manner.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tyrosinemia type 2" for support, advocacy or research.

Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

Last Updated: 2 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tyrosinemia type 2" for support, advocacy or research.

Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

http://www.go-ipad.org

Last Updated: 2 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Tyrosinemia type 2" returned 2 free, full-text research articles on human participants. First 3 results:

[Clinical follow up of Chilean patients with tyrosinemia type 1 treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-ciclohexanedione (NTBC)].
 

Author(s): Erna Raimann, Verónica Cornejo, Carolina Arias, Juan Francisco Cabello, Gabriela Castro, Eloina Fernández, Alicia de la Parra

Journal: Rev Med Chil. 2012 Feb;140(2):169-75.

 

Tyrosinemia type I is an inborn error of metabolism due to deficiency of fumarilacetoacetase. Acute presentation is with liver failure, hypophosphatemic rickets and peripheral neuropathy. Chronic presentation is with visceromegaly and subclinical rickets. The most severe complications ...

Last Updated: 28 Jun 2012

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Identification of 2-[2-nitro-4-(trifluoromethyl)benzoyl]- cyclohexane-1,3-dione metabolites in urine of patients suffering from tyrosinemia type I with the use of 1H and 19F NMR spectroscopy.
 

Author(s): Przemysław Szczeciński, Diana Lamparska, Adam Gryff-Keller, Wanda Gradowska

Journal: Acta Biochim. Pol.. 2008 ;55(4):749-52.

 

Organic extracts of six urine samples from children treated with nitisinone, a medicine against tyrosinemia type I, were investigated by (1)H and (19)F NMR spectroscopy. The presence of unchanged 2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione (NTBC), 6-hydroxy-2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione ...

Last Updated: 8 Jan 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Tyrosinemia type 2" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.