Faull K F, Schier G M, Schlesinger P, Halpern B
Clin Chim Acta. 1976 Jul 15;70(2):313-21. doi: 10.1016/0009-8981(76)90433-2.
The identification of a complex ninhydrin positive mixture present in the urine of a child suffering from chronic skin ulceration and oedema by direct chemical ionisation mass spectrometric analysis is described. The compounds were shown to be dipeptides, of which glycylproline was the major constituent. At least 15 dipeptides were identified in the urine, most of which contained proline or hydroxyproline in the carboxy terminal position. The results suggested that the patient suffered from a defect in collagen metabolism. This hypothesis was subsequently confirmed by a grossly diminished level of prolidase in cultured fibroblasts and erythrocytes.
本文描述了通过直接化学电离质谱分析法,对一名患有慢性皮肤溃疡和水肿的儿童尿液中存在的复杂茚三酮阳性混合物进行鉴定的过程。结果表明这些化合物为二肽,其中甘氨酰脯氨酸是主要成分。尿液中至少鉴定出15种二肽,其中大多数在羧基末端位置含有脯氨酸或羟脯氨酸。结果提示该患者存在胶原代谢缺陷。这一假设随后通过培养的成纤维细胞和红细胞中脯氨酰二肽酶水平显著降低得到证实。