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. 1978 Apr 14;200(4338):200-1.
doi: 10.1126/science.635581.

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

J J O'Donnell, R P Sandman, S R Martin

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

J J O'Donnell et al. Science. .

Abstract

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.

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