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Pathway Description
Ornithine Aminotransferase Deficiency (OAT Deficiency)
Homo sapiens
Disease Pathway
Created: 2022-11-04
Last Updated: 2023-10-25
Ornithine aminotransferase deficiency (OAT deficiency, ornithine keto acid aminotransferase deficiency, OKT deficiency, ornithine-delta-aminotransferase deficiency, gyrate atrophy of the choroid and retina) is an autosomal recessive disorder of ornithine metabolism caused by a defective ornithine aminotransferase (OAT). OAT catalyzes the conversion of ornithine into proline which is a conditionally essential amino acid. This disease is characterized by a very large accumulation of ornithine in the blood. Symptoms of the disease include tunnel vision, night blindness, myopia, and progressive vision loss.
References
Ornithine Aminotransferase Deficiency (OAT Deficiency) References
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Pubmed: 11941481
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Pubmed: 3456579
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Pubmed: 3816496
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Pubmed: 2507357
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Pubmed: 14702039
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Pubmed: 25865492
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