Gyrate atrophy of the retina and choroid. Two methods for prenatal diagnosis.
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.
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
D009952:Ornithine; D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase