Tyrosinemia type 2

Common Name(s)

Tyrosinemia type 2, Richner-Hanhart syndrome, Oculocutaneous tyrosinemia

Tyrosinemia, type II (TYR II) is a rare genetic condition. TYR II results from a mutation or error in a person’s DNA or genes. Due to this mistake, people with TYR II have problems breaking down certain building blocks called amino acids. TYR II occurs when the body either does not make enough or makes non-working TYR II enzyme, tyrosine aminotransferase (TAT). Enzymes are special proteins that help break down the food we eat into the pieces our body can use, for example to help make energy. If there is not enough working TAT, then the body cannot break down the amino acid tyrosine. This causes high levels of tyrosine in the liver, kidneys and central nervous system which may become toxic and cause damage. High levels of tyrosine may be detected in the blood and urine.

Most affected individuals may show signs in the first year of life, but some individuals with TYR II develop normally without any signs of the condition. TYR II tends to affect the skin and eyes, so common symptoms of this condition may include increased tear production, sensitivity to light (called photophobia), eye redness, skin lesions or cuts on the hands and feet, behavior changes, and poor coordination. If untreated, individuals are at risk developing intellectual disabilities. Seizures and behavioral problems may develop as well. Many of these complications can be prevented with early detection and lifelong management with a special diet. Many babies are screened for TYR II at birth so that treatment can begin early, however the conditions included in newborn screening differ from state to state. For more information, visit http://www.babysfirsttest.org. TYR II is an autosomal recessive trait. A genetic counselor can help you understand the genetics. Talk with your baby’s doctor and specialists to decide on the best treatment plan. Support groups are also a good source of information.

Source: Advocacy organizations associated with the condition.

 

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.