Freij B J, Levy H L, Dudin G, Mutasim D, Deeb M, Der Kaloustian V M
Am J Med Genet. 1984 Nov;19(3):561-71. doi: 10.1002/ajmg.1320190319.
Two brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline was the most prominent imidodipeptide excreted and was also detected in their blood. Prolidase activity was markedly deficient in red blood cells from both patients (4.1% and 3.7% of control mean) and skin fibroblasts from the one brother so examined (3.7% of control mean). A total of 20 patients with prolidase deficiency, including the two in this report, have been described in the literature. Their manifestations and various attempts at treatment are reviewed.
发现两名患有复发性下肢皮肤溃疡、智力发育迟缓、发育异常和白发症的兄弟尿液中大量排泄几种亚氨基二肽。甘氨酰脯氨酸是排泄出的最主要亚氨基二肽，在他们的血液中也被检测到。两名患者红细胞中的脯氨酰二肽酶活性均显著缺乏（分别为对照平均值的4.1%和3.7%），对其中一名兄弟进行检测的皮肤成纤维细胞中该酶活性也显著缺乏（为对照平均值的3.7%）。包括本报告中的两名患者在内，文献中总共描述了20例脯氨酰二肽酶缺乏症患者。本文对他们的临床表现及各种治疗尝试进行了综述。
