Stoppoloni G, Prisco F, Santinelli R, Tolone C
Helv Paediatr Acta. 1978 Nov;33(4-5):429-33.
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.
一名3岁9个月大的女孩被诊断出患有高鸟氨酸血症以及脉络膜和视网膜的回旋状萎缩。她还表现出轻度智力发育迟缓、语言发育延迟和言语缺陷。将蛋白质摄入量限制在每天最低0.8克/千克，可使血浆鸟氨酸水平显著降低。在该综合征之前的一些报告中，培养的成纤维细胞中发现鸟氨酸-酮酸转氨酶活性不足。
