Saito T, Hayasaka S, Yabata K, Omura K, Mizuno K, Tada K
Tohoku J Exp Med. 1981 Nov;135(3):331-2. doi: 10.1620/tjem.135.331.
A 44-year-old woman with atypical gyrate atrophy and iminoglycinuria was described. The serum ornithine level and ornithine-ketoacid transaminase (OKT) activity were both normal. Urinary excretion of proline, hydroxyproline and glycine was markedly increased. This finding, together with the existence of gyrate atrophy with hyperornithinemia due to OKT deficiency, suggests that proline deficiency in the chorioretinal tissues may concern the development of gyrate atrophy.
描述了一名患有非典型回旋状萎缩和亚氨基甘氨酸尿症的44岁女性。血清鸟氨酸水平和鸟氨酸-酮酸转氨酶（OKT）活性均正常。尿中脯氨酸、羟脯氨酸和甘氨酸的排泄量显著增加。这一发现，连同因OKT缺乏导致的高鸟氨酸血症性回旋状萎缩的存在，提示脉络膜视网膜组织中的脯氨酸缺乏可能与回旋状萎缩的发生有关。
