Free amino acid concentrations in blood cells of two brothers with gyrate atrophy of the choroid and retina with hyperornithinaemia.
In this study we selected blood cells as accessible tissues and measured the free amino acid concentrations in erythrocytes, lymphocytes, and granulocytes of two patients with gyrate atrophy with hyperornithinaemia. We found that ornithine concentrations were elevated in blood cells, to different degrees depending on the type of cell, and that aspartic acid concentrations were low in erythrocytes. We also investigated the fluctuation of free amino acid concentrations in blood cells up to 24 h after the oral administration of ornithine. The ornithine concentration in the blood cells of the patients reached a peak 2 h after the oral administration, and remained high for at least 4 h, although after 2 h the concentration curves differed in the three types of cells.
D000328:Adult; D000596:Amino Acids / Q000097:blood*; D001773:Blood Cells / Q000378:metabolism*; D002829:Choroid; D004912:Erythrocytes / Q000378:metabolism; D006098:Granulocytes / Q000378:metabolism; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D009952:Ornithine / Q000097:blood*; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency*; D012162:Retinal Degeneration / Q000097:blood / Q000235:genetics*; D000637:Transaminases / Q000172:deficiency*; D014603:Uveal Diseases / Q000235:genetics
D000596:Amino Acids; D009952:Ornithine; D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase