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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.

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。

相似文献

1
Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase.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。
Science. 1978 Apr 14;200(4338):200-1. doi: 10.1126/science.635581.
2
Deficient L-ornithine: 2-oxoacid aminotransferase activity in cultured fibroblasts from a patient with gyrate atrophy of the retina.视网膜回旋性萎缩患者培养成纤维细胞中L-鸟氨酸：2-氧代酸转氨酶活性缺乏
Biochem Biophys Res Commun. 1977 Nov 21;79(2):396-9. doi: 10.1016/0006-291x(77)90170-x.
3
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.鸟氨酸酮酸转氨酶缺乏与视网膜脉络膜回旋性萎缩
Am J Hum Genet. 1978 Mar;30(2):174-9.
4
Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.脉络膜和视网膜的回旋状萎缩：转化淋巴细胞中鸟氨酸转氨酶缺乏
Proc Natl Acad Sci U S A. 1977 Nov;74(11):5159-61. doi: 10.1073/pnas.74.11.5159.
5
The hexose monophosphate pentose pathway in fibroblasts deficient in L-ornithine: 2-oxoacid aminotransferase activity.
Biochem Biophys Res Commun. 1980 Apr 29;93(4):994-8. doi: 10.1016/0006-291x(80)90587-2.
6
Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina.吡哆醇对两种脉络膜视网膜回旋性萎缩携带者成纤维细胞中鸟氨酸酮酸转氨酶活性的影响
Am J Hum Genet. 1988 Dec;43(6):929-33.
7
Hyperornithinaemia associated with gyrate atrophy of the choroid and retina: in vivo and in vitro response to vitamin B6.与脉络膜和视网膜回旋状萎缩相关的高鸟氨酸血症：对维生素B6的体内和体外反应
J Inherit Metab Dis. 1981;4(2):61-2. doi: 10.1007/BF02263591.
8
Gyrate atrophy of the retina and choroid. Two methods for prenatal diagnosis.视网膜和脉络膜的回旋状萎缩。两种产前诊断方法。
Int Ophthalmol. 1981 Aug;4(1-2):33-6. doi: 10.1007/BF00139578.
9
L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina.一名患有高鸟氨酸血症及脉络膜和视网膜回旋状萎缩的患者的培养成纤维细胞中L-鸟氨酸-酮酸转氨酶缺乏症
Clin Chim Acta. 1977 Sep 1;79(2):371-7. doi: 10.1016/0009-8981(77)90431-4.
10
Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.一个患有视网膜脉络膜回旋性萎缩的家族中鸟氨酸转氨酶基因、信使核糖核酸及酶缺陷的遗传情况
Am J Hum Genet. 1989 Mar;44(3):353-7.

引用本文的文献

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Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.墨西哥回旋状萎缩患者的多模态成像与基因筛查：新型鸟氨酸氨基转移酶致病变异体的鉴定
Int Ophthalmol. 2024 Dec 7;45(1):1. doi: 10.1007/s10792-024-03260-0.
2
Retina Metabolism and Metabolism in the Pigmented Epithelium: A Busy Intersection.视网膜代谢与色素上皮代谢：一个繁忙的交叉点。
Annu Rev Vis Sci. 2021 Sep 15;7:665-692. doi: 10.1146/annurev-vision-100419-115156. Epub 2021 Jun 8.
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Proline metabolism and transport in retinal health and disease.
脯氨酸代谢与转运在视网膜健康与疾病中的作用
Amino Acids. 2021 Dec;53(12):1789-1806. doi: 10.1007/s00726-021-02981-1. Epub 2021 Apr 19.
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Proline mediates metabolic communication between retinal pigment epithelial cells and the retina.脯氨酸介导视网膜色素上皮细胞与视网膜之间的代谢通讯。
J Biol Chem. 2019 Jun 28;294(26):10278-10289. doi: 10.1074/jbc.RA119.007983. Epub 2019 May 19.
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Human retinal pigment epithelial cells prefer proline as a nutrient and transport metabolic intermediates to the retinal side.人视网膜色素上皮细胞更喜欢脯氨酸作为营养物质，并将代谢中间产物转运至视网膜一侧。
J Biol Chem. 2017 Aug 4;292(31):12895-12905. doi: 10.1074/jbc.M117.788422. Epub 2017 Jun 14.
6
Progression of gyrate atrophy measured with ultra-wide-field imaging.使用超广角成像测量的视网膜色素变性进展。
Int Ophthalmol. 2016 Feb;36(1):111-120. doi: 10.1007/s10792-015-0085-3. Epub 2015 May 26.
7
Ornithine aminotransferase versus GABA aminotransferase: implications for the design of new anticancer drugs.鸟氨酸转氨酶与γ-氨基丁酸转氨酶：对新型抗癌药物设计的启示
Med Res Rev. 2015 Mar;35(2):286-305. doi: 10.1002/med.21328. Epub 2014 Aug 22.
8
Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.回旋状萎缩：一名在生命最初39年未进行精氨酸限制饮食的女性的临床和基因研究结果以及一个新的OAT基因突变报告
Doc Ophthalmol. 2012 Aug;125(1):81-9. doi: 10.1007/s10633-012-9335-0. Epub 2012 Jun 7.
9
Endogenous ornithine in search for CNS functions and therapeutic applications.寻找中枢神经系统功能及治疗应用的内源性鸟氨酸。
Metab Brain Dis. 1993 Sep;8(3):151-79. doi: 10.1007/BF00996928.
10
The plasma flux and oxidation rate of ornithine adaptively decline with restricted arginine intake.随着精氨酸摄入量受限，鸟氨酸的血浆通量和氧化率会适应性下降。
Proc Natl Acad Sci U S A. 1994 Jul 5;91(14):6393-7. doi: 10.1073/pnas.91.14.6393.