Reduction of hyperornithinemia with a low protein, low arginine diet and pyridoxine in patients with a deficiency of ornithine-ketoacid transaminase (OKT) activity and gyrate atrophy of the choroid and retina.
Five patients with gyrate atrophy of the choroid and retina showed a 60% of greater decline in plasma ornithine levels during a five week trial of a low protein (10--15 g/day), low arginine (0.50--0.75 g/day) diet supplemented with essential amino acids and pyridoxine administration. These declines in plasma ornithine levels were seen in Patients 1--4 with the pyridoxine non-responsive variant and in Patient 5 with the pyridoxine responsive variant. No harmful systemic side effects were noted. Patients 1--4 continued on a modified low protein (20--35 g/day), low arginine (1.25--1.75 g/day) diet as tolerated and Patient 5 on pyridoxine alone. After one year no improvement was observed in visual acuities, visual fields, final dark adapted thresholds and full field electroretinograms for four patients. In contrast to the other four patients, Patient 3, with relatively poor control of plasma ornithine levels, showed signs of progression of the chorioretinal atrophy and further reduction of electroretinographic responses. Patients 1--4 continue on the dietary regimen and Patient 5 on pyridoxine alone to determine whether any lowering of plasma ornithine levels will modify the course of their ocular disease.
D000293:Adolescent; D000328:Adult; D000601:Amino Acids, Essential / Q000627:therapeutic use; D001120:Arginine / Q000008:administration & dosage; D002648:Child; D002829:Choroid; D004044:Dietary Proteins / Q000008:administration & dosage*; D005260:Female; D006801:Humans; D008297:Male; D009952:Ornithine / Q000097:blood*; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency*; D011736:Pyridoxine / Q000627:therapeutic use; D012162:Retinal Degeneration / Q000097:blood / Q000178:diet therapy*; D000637:Transaminases / Q000172:deficiency*; D014603:Uveal Diseases / Q000097:blood / Q000178:diet therapy*
D000601:Amino Acids, Essential; D004044:Dietary Proteins; D001120:Arginine; D009952:Ornithine; D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase; D011736:Pyridoxine