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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase.

Cultured fibroblasts from a patient with gyrate atrophy of the retina do not convert L-ornithine, uniformly labeled with carbon-14, to proline. This metabolic block is caused by deficient L-ornithine:2-oxoacid aminotransferase activity in the patient. Her heterozygote father has intermediate activity of this enzyme.[1]

References

  1. Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase. O'Donnell, J.J., Sandman, R.P., Martin, S.R. Science (1978) [Pubmed]
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