一名无明显蛋白质不耐受的土耳其婴儿的高双氨基酸尿症
Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance.
作者信息
Endres W, Zoulek G, Schaub J
出版信息
Eur J Pediatr. 1979 Apr 25;131(1):33-41. doi: 10.1007/BF00442783.
PMID:436855
Abstract
The first patient of Turkish descent with hyperdibasicaminoaciduria is described. Recurrent diarrhea was observed only during the first three months of life. The infant exhibited low plasma levels of ornithine and arginine. Intestinal absorption of lysine was decreased. Hyperammonemia was noticed only after an i.v. alanine load. It was prevented by addition of arginine.
摘要
本文描述了首例患有高双氨基酸尿症的土耳其裔患者。仅在出生后的前三个月观察到反复腹泻。该婴儿血浆中鸟氨酸和精氨酸水平较低。赖氨酸的肠道吸收减少。仅在静脉注射丙氨酸负荷后才出现高氨血症。补充精氨酸可预防高氨血症。
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