Gyrate Atrophy of the Retina: Inborn Error of L-Ornithin:2-Oxoacid Aminotransferase
- 14 April 1978
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 200 (4338) , 200-201
- https://doi.org/10.1126/science.635581
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.This publication has 15 references indexed in Scilit:
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