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

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Science  14 Apr 1978:
Vol. 200, Issue 4338, pp. 200-201
DOI: 10.1126/science.635581


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.