Hyperornithinemia and gyrate atrophy of the choroid and retina.
The diagnosis of hyperornithinemia and gyrate atrophy (HOGA) depends upon the presence of five characteristic features: (1) typical chorioretinal lesions, (2) high myopia, (3) cataracts, (4) hyperornithinemia, and (5) autosomal recessive inheritance. We have seen three patients and described four new findings: (1) decreased whole blood glutamic acid, (2) low normal intelligence, (3) hepatic mitochondrial changes, and (4) urinary excretion of ornithine methyl ester. Investigations of amino acid metabolism in vivo are consistent with the presence of a defect in ornithine keto-acid transaminase.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D001284:Atrophy; D002648:Child; D002829:Choroid / Q000473:pathology*; D005260:Female; D005971:Glutamates / Q000097:blood; D006801:Humans; D008297:Male; D008875:Middle Aged; D008930:Mitochondria, Liver / Q000201:enzymology / Q000648:ultrastructure; D009952:Ornithine / Q000097:blood / Q000378:metabolism*; D009953:Ornithine-Oxo-Acid Transaminase / Q000378:metabolism; D010375:Pedigree; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D014603:Uveal Diseases / Q000175:diagnosis* / Q000235:genetics
D005971:Glutamates; D009952:Ornithine; D009953:Ornithine-Oxo-Acid Transaminase