Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase.
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.
D000293:Adolescent; D005260:Female; D006579:Heterozygote; D006801:Humans; D009952:Ornithine / Q000097:blood; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency*; D010375:Pedigree; D012162:Retinal Degeneration / Q000201:enzymology* / Q000235:genetics; D000637:Transaminases / Q000172:deficiency*
D009952:Ornithine; D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase