Hyperornithinemia and gyrate atrophy of the choroid and retina.
Hyperornithinemia and gyrate atrophy of the choroid and retina.
复制标题
高鸟氨酸血症和脉络膜和视网膜回旋萎缩。
DOI：
10.1016/s0161-6420(78)35598-6
复制
发表时间：
1978
期刊：
影响因子：
13.7
通讯作者：
J. Parker
中科院分区：
文献类型：
--
作者：
J. Mcculloch;S. Arshinoff;E. Marliss;J. Parker
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 ketoacid transaminase.
