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

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.