Jackson S H, Dennis A W, Greenberg M
Department of Clinical Biochemistry, Hospital for Sick Children, Toronto, ON.
Can Med Assoc J. 1975 Oct 18;113(8):759, 762-3.
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.
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。
