Hyperornithinemia and gyrate atrophy of choroid and retina. Report of a case.
A case of hyperornithinemia and gyrate atrophy of choroid and retina has been observed in a 3-year and 9-month-old girl. She presented also mild mental retardation, delayed language development and speech defects. The restriction of protein intake to a minimum of 0.8 g/kg/day induced a significant reduction of plasma ornithine levels. In some of the previous reports of the syndrome, a deficient ornithine-ketoacid transaminase activity has been found in cultured fibroblasts.
D001284:Atrophy; D002675:Child, Preschool; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D007804:Language Development; D009952:Ornithine / Q000097:blood*; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency*; D012164:Retinal Diseases / Q000097:blood* / Q000201:enzymology; D013064:Speech Disorders; D013577:Syndrome; D000637:Transaminases / Q000172:deficiency*; D014603:Uveal Diseases / Q000097:blood* / Q000201:enzymology
D004044:Dietary Proteins; D009952:Ornithine; D000637:Transaminases; D009953:Ornithine-Oxo-Acid Transaminase