Tuchman M, Holzknecht R A
Department of Pediatrics, University of Minnesota, Minneapolis.
Clin Invest Med. 1991 Aug;14(4):320-4.
Fourteen patients, 10 males and 4 females, with "late onset" ornithine transcarbamylase (OTC) deficiency were diagnosed by enzyme assays performed on their liver tissues. Age of first clinical presentation ranged widely from 10 weeks to 23 y (mean = 6.1 y). Peak plasma ammonia levels varied widely from a low of 105 mumol/L to as high as 800 mumol/L. All patients had elevated plasma levels of glutamine whereas plasma levels of citrulline were normal in 6 patients. Plasma ornithine levels were not elevated in any patient. Orotic aciduria of variable degree was detected in 13 patients. Residual hepatic OTC activity was detectable in 13 out of the 14 patients ranging from 0.7 to 28.3 mumol/g/min (normal = 80.6 +/- 19.1, mean +/- SD, n = 52). Ten patients were alive at the time of this report and 5 of them had psychomotor delay.
通过对14名患者肝脏组织进行酶分析，诊断出10名男性和4名女性患有“迟发性”鸟氨酸转氨甲酰酶（OTC）缺乏症。首次临床表现的年龄范围很广，从10周龄到23岁（平均=6.1岁）。血浆氨峰值水平差异很大，从低至105μmol/L到高达800μmol/L。所有患者的血浆谷氨酰胺水平均升高，而6名患者的血浆瓜氨酸水平正常。所有患者的血浆鸟氨酸水平均未升高。13名患者检测到不同程度的乳清酸尿症。14名患者中有13名可检测到残余肝脏OTC活性，范围为0.7至28.3μmol/g/分钟（正常=80.6±19.1，平均值±标准差，n=52）。在撰写本报告时，10名患者存活，其中5名有精神运动发育迟缓。
