蛋氨酸负荷试验诊断同型胱氨酸尿症  

EMTHIONINE LOADING TEST FOR THE DIAGNOSIS OF HOMOCYSTINURIA

作　　者：姜程茂 章尧[1] 沈志红[1] 周蓓[1] 李泳[1] 蒋秉坤[1] 

机构地区：[1]蚌埠医学院临床生化教研室

出　　处：《蚌埠医学院学报》1991年第4期238-240,共3页Journal of Bengbu Medical College

摘　　要：本文研究同型胱氨酸尿症患者和健康志愿者负荷L-蛋氨酸或DL-蛋氨酸后,比较他们尿中该氨基酸和同型胱氨酸的水平。结果表明本症患者与健康志愿者的不同处是尿中存在大量同型胱氨酸。正常人负荷蛋氨酸后尿中无可检出的异常产物同型胱氨酸,同型胱氨酸尿症患者系缺乏胱硫醚β-合酶的纯合子,不能对蛋氨酸进行正常代谢而产生大量同型胱氨酸。The level of urinary methionine a nd homocystine after oral L-methionine or DL-methionine loading in a patient with homocys-tinuria was compared with a healthy volunteer. The results clearly indicated that the patient with homocystinuria was different from the healthy volunteer in the urinary homocystine. Methionine loading normally does not lead to the detectable level of its abnormal product homocystine in urine. The homozygous patient with cystathio-ninc β-synthase deficiency is unable to normalization for the metabolism of methionine to produce a lot of homocystine.

关 键 词：胱氨酸尿症 蛋氨酸 负荷试验 

分 类 号：R695.404[医药卫生—泌尿科学]