脯氨酰二肽酶缺乏症：一名尿液中无含羟脯氨酸亚氨基二肽的患者。
Prolidase deficiency: a patient without hydroxyproline-containing iminodipeptides in urine.
作者信息
Wysocki S J, Hahnel R, Mahoney T, Wilson R G, Panegyres P K
机构信息
Department of Obstetrics and Gynaecology, University of Western Australia, King Edward Memorial Hospital for Women, Subiaco.
出版信息
J Inherit Metab Dis. 1988;11(2):161-5. doi: 10.1007/BF01799866.
PMID:3139928
Abstract
A 17-year-old girl was shown to have prolidase deficiency on the basis of the presence of large amounts of proline-containing dipeptides in urine and an almost complete absence of prolidase in plasma and erythrocytes. Unlike most earlier cases of this genetic defect our patient did not excrete hydroxyproline-containing dipeptides in her urine.
摘要
一名17岁女孩因尿液中存在大量含脯氨酸的二肽，且血浆和红细胞中几乎完全缺乏脯氨酰二肽酶而被诊断为脯氨酰二肽酶缺乏症。与该基因缺陷的大多数早期病例不同，我们的患者尿液中并未排出含羟脯氨酸的二肽。
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