A specific enzyme defect in gyrate atrophy.
To establish the enzyme defect in gyrate atrophy, we measured the activity of ornithine aminotransferase in phytohemagglutinin stimulated lymphocytes in a patient with gyrate atrophy, her daughter, and three normal controls. The patient's cells had no detectable ornithine aminotransferase activity and the daughter's cells had 44% of control activity. This intermediate value is characteristic of an obligate heterozygote. These results are the first demonstration of an enzyme defect in gyrate atrophy.
D000328:Adult; D005260:Female; D006801:Humans; D008214:Lymphocytes / Q000201:enzymology; D009955:Ornithine Decarboxylase / Q000097:blood; D009953:Ornithine-Oxo-Acid Transaminase / Q000097:blood*; D012162:Retinal Degeneration / Q000201:enzymology*; D000637:Transaminases / Q000097:blood*
D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase; D009955:Ornithine Decarboxylase