视网膜回旋状萎缩：L-鸟氨酸：2-氧代酸氨基转移酶的先天性缺陷。
Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase.
作者信息
O'Donnell J J, Sandman R P, Martin S R
出版信息
Science. 1978 Apr 14;200(4338):200-1. doi: 10.1126/science.635581.
PMID:635581
Abstract
Cultured fibroblasts from a patient with gyrate atrophy of the retina do not convert L-ornithine, uniformly labeled with carbon-14, to proline. This metabolic block is caused by deficient L-ornithine:2-oxoacid aminotransferase activity in the patient. Her heterozygote father has intermediate activity of this enzyme.
摘要
一名患有视网膜回旋性萎缩的患者的培养成纤维细胞不能将均匀标记有碳 - 14的L - 鸟氨酸转化为脯氨酸。这种代谢障碍是由该患者体内L - 鸟氨酸：2 - 氧代酸氨基转移酶活性不足引起的。她的杂合子父亲该酶活性处于中间水平。
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