Camptodactyly Taurinuria

Common Name(s)

Camptodactyly Taurinuria

Camptodactyly - Taurinia is a rare disorder characerized by abnormally high levels of a chemical called taurine in the urine and hand abnormalities. Taurine is a molecule found in blood and urine that plays a role in neurological function. Abnormally high levels of taurine have been found to sometimes cause intellectual disability and seizures. Hence, individuals with this disorder may have problems with reasoning and solving problems, as well as performing day-to-day tasks. The condition is often diagnosed during childhood. Signs like walking and talking late, slow mastering of basic tasks, and having difficulty remembering things may also suggest this condition in children. Treatment is developed on a case-by-case basis and depends on the specific needs of the patient. Doctors may suggest individuals take medication to reduce taurine levels in the body. Doctors seek help from various therapists and community services to provide support and care for families affected by intellectual disability.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Camptodactyly Taurinuria" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 "Camptodactyly Taurinuria" returned 1 free, full-text research articles on human participants. First 3 results:

Familial camptodactyly with taurinuria.
 

Author(s): N C Nevin, L J Hurwitz, D W Neill

Journal: J. Med. Genet.. 1966 Dec;3(4):265-8.

 

Last Updated: 21 Sep 2005

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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 "Camptodactyly Taurinuria" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.