Gyrate Atrophy of the Retina: Inborn Error of L-Ornithin:2-Oxoacid Aminotransferase

作者：James John O'Donnell, Robert P. Sandman, Susan Martin · 发表于：Science · 年份：1978 · DOI：10.1126/science.635581 · 被引用次数：75 · 研究领域：Amino Acid Enzymes and Metabolism、Nitric Oxide and Endothelin Effects、Metabolism and Genetic Disorders

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.