title: Gyrate atrophy of the retina and choroid. Two methods for prenatal diagnosis.
abstract: We report two methods for prenatal diagnosis of gyrate atrophy of the retina and choroid caused by an inborn error of ornithine aminotransferase activity. A high pressure liquid chromatography assay measures ornithine aminotransferase accurately and directly in cultured amniotic fluid cells. The differential incorporation of 14C-ornithine and 3H-leucine into cell protein measures OAT directly but rapidly and simply.
mesh_terms: D000653:Amniotic Fluid / Q000032:analysis; D001284:Atrophy / Q000473:pathology; D002648:Child; D002829:Choroid / Q000473:pathology; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D009952:Ornithine / Q000378:metabolism; D009953:Ornithine-Oxo-Acid Transaminase / Q000032:analysis / Q000172:deficiency*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012162:Retinal Degeneration / Q000175:diagnosis*; D000637:Transaminases / Q000172:deficiency*; D014603:Uveal Diseases / Q000175:diagnosis
chemical_list: D009952:Ornithine; D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase