title: Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.
abstract: Gyrate atrophy of the choroid and retina is an inherited form of chorioretinal degeneration associated with hyperornithinemia. We measured the activity of ornithine aminotransferase (L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1.13) in phytohemagglutinin-stimulated lymphocytes of a patient with gyrate atrophy and her daughter. The patient's cells had no detectable ornithine aminotransferase activity, and the activity in the heterozygote's cells was 44% of normal values. Measurements of [3H]thymidine incorporation and other transformation-affected enzymes verified that the patient's cells were transformed. These results demonstrate an enzyme deficiency in gyrate atrophy.
mesh_terms: D000328:Adult; D001284:Atrophy / Q000201:enzymology; D002675:Child, Preschool; D002829:Choroid / Q000473:pathology*; D005260:Female; D006801:Humans; D008213:Lymphocyte Activation; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency*; D012160:Retina / Q000473:pathology*; D012162:Retinal Degeneration / Q000201:enzymology* / Q000473:pathology; D013936:Thymidine / Q000378:metabolism; D000637:Transaminases / Q000172:deficiency*; D014603:Uveal Diseases / Q000201:enzymology / Q000473:pathology
chemical_list: D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase; D013936:Thymidine
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