亚氨基二肽尿症：胶原蛋白循环中的一种基因缺陷；一种测定红细胞中脯氨酰二肽酶的方法。
Iminodipeptiduria: a genetic defect in recycling collagen; a method for determining prolidase in erythrocytes.
作者信息
Jackson S H, Dennis A W, Greenberg M
机构信息
Department of Clinical Biochemistry, Hospital for Sick Children, Toronto, ON.
出版信息
Can Med Assoc J. 1975 Oct 18;113(8):759, 762-3.
Abstract
A 39-month-old girl was found to have a genetic deficiency of prolidase. This enzyme specifically splits dipeptides with proline or hydroxyproline at the C-terminus. Absence of the enzyme leads to massive urinary excretion of iminodipeptides. Clinical symptoms include some that can be ascribed to collagen defects. Previously we had demonstrated that the efficient recycling of proline by the breakdown and resynthesis of collagen is a normal physiological process. The collagen defects in this condition could result from interference with the normal recycling of collagen.
摘要
一名39个月大的女孩被发现患有脯氨肽酶基因缺陷。这种酶特异性地裂解C末端带有脯氨酸或羟脯氨酸的二肽。该酶的缺失导致亚氨基二肽大量经尿液排泄。临床症状包括一些可归因于胶原蛋白缺陷的症状。此前我们已经证明，通过胶原蛋白的分解和再合成实现脯氨酸的有效循环利用是一个正常的生理过程。这种情况下的胶原蛋白缺陷可能是由于正常的胶原蛋白循环受到干扰所致。
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本文引用的文献
1
Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease.氨基酸的快速短柱色谱法。一种用于代谢疾病诊断和治疗的血液及尿液标本检测方法。
Anal Biochem. 1967 Aug;20(2):299-311. doi: 10.1016/0003-2697(67)90035-8.
2
A syndrome resembling lathyrism associated with iminodipeptiduria.一种与亚氨基二肽尿症相关的类似山黧豆中毒的综合征。
Am J Med. 1968 Jul;45(1):152-9. doi: 10.1016/0002-9343(68)90016-8.
3
A prolidase deficiency in man with iminopeptiduria.一名患有亚氨基肽尿症的男性存在脯氨酰二肽酶缺乏症。
Metabolism. 1974 Jun;23(6):505-13. doi: 10.1016/0026-0495(74)90078-x.
4
Determination of dipeptides in urine.尿液中二肽的测定。
Clin Chim Acta. 1974 Apr;52(2):137-42. doi: 10.1016/0009-8981(74)90203-4.
5
A reassessment of the collagen reutilization theory by an isotope ratio method.通过同位素比率法对胶原蛋白再利用理论的重新评估。
Clin Chim Acta. 1973 Jun 28;46(2):153-60. doi: 10.1016/0009-8981(73)90023-5.
6
Further studies on a patient with iminodipeptiduria: a probable case of prolidase deficiency.
Metabolism. 1972 Dec;21(12):1113-23. doi: 10.1016/0026-0495(72)90106-0.
7
Morphological studies of fibrocytes in connective tissue undergoing rapid remodelling.对正在经历快速重塑的结缔组织中的纤维细胞进行的形态学研究。
J Anat. 1972 Sep;112(Pt 3):401-14.
8
Studies on the structure and activity of rabbit Clq (a subcomponent of the first component of complement).兔补体第一成分亚组分Clq的结构与活性研究。
Biochem J. 1974 Nov;143(2):265-72. doi: 10.1042/bj1430265.
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