Ornithine aminotransferase deficiency

Common Name(s)

Ornithine aminotransferase deficiency, Gyrate Atrophy of Choroid and Retina

Ornithine aminotransferase deficiency is a genetic condition that involves the choroid (the thin coating of the eye) and retina. It is characterized by elevated levels of orthinine in the body. Symptoms include poor vision at night or in dim light and peripheral vision loss. Patients may have good central vision into middle-age, however, total blindness usually occurs between the ages of 40 and 60. This deficiency is caused by a change in a gene called ornithine ketoacid aminotransferase (OAT) and is inherited in an autosomal recessive fashion.

There are two different forms of ornithine aminotransferase deficiency; one that is responsive to vitamin B6 supplementation and one that is not. Patients who are responsive may be prescribed vitamin B6 supplements. Those who have the unresponsive form may be recommended to maintain a low protein diet. Recent studies have also investigated the benefit of increasing lysine intake.   The intended goal of these diet modifications is to reduce plasma ornithine levels.

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ornithine aminotransferase deficiency" 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 "Ornithine aminotransferase deficiency" returned 3 free, full-text research articles on human participants. First 3 results:

Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.
 

Author(s): Yumiko Ohkubo, Akihito Ueta, Tetsuya Ito, Satoshi Sumi, Mari Yamada, Katsuko Ozawa, Hajime Togari

Journal: Tohoku J. Exp. Med.. 2005 Apr;205(4):335-42.

 

Ornithine aminotransferase (OAT) deficiency (MIM: 258870) is a rare congenital metabolic disorder characterized by gyrate atrophy of the choroid and retina. Here, we report a 37-year-old male with gyrate atrophy of the choroid and retina who has been treated for 18 years. At the age ...

Last Updated: 7 Mar 2005

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Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
 

Author(s): V Ramesh, A I McClatchey, N Ramesh, L A Benoit, E L Berson, V E Shih, J F Gusella

Journal: Proc. Natl. Acad. Sci. U.S.A.. 1988 Jun;85(11):3777-80.

 

Gyrate atrophy (GA), a recessive eye disease involving progressive loss of vision due to chorioretinal degeneration, is associated with a deficiency of the mitochondrial enzyme ornithine aminotransferase (OATase; ornithine-oxo-acid aminotransferase; L-ornithine:2-oxo-acid aminotransferase, ...

Last Updated: 8 Jul 1988

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Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.
 

Author(s): D Valle, M I Kaiser-Kupfer, L A Del Valle

Journal: Proc. Natl. Acad. Sci. U.S.A.. 1977 Nov;74(11):5159-61.

 

Gyrate atrophy of the choroid and retina is an inherited form of chorioretinal degeneration associated with hyperornithinemia. We measured the activity of ornithine aminotransferase (L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1.13) in phytohemagglutinin-stimulated lymphocytes ...

Last Updated: 27 Jan 1978

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Reviews from the PubMed Database

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The terms "Ornithine aminotransferase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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