Oyanagi K, Itakura Y, Tsuchiyama A, Nakao T, Nakano K, Saeki T
Tohoku J Exp Med. 1986 Apr;148(4):385-91. doi: 10.1620/tjem.148.385.
Two cases of citrullinemia were reported. Case 1 was an one month old female. Her clinical course and findings were different from the fulminant type of neonatal citrullinemia reported in predominantly Caucasian countries. Our patient was well controlled under a low protein diet and essential amino acids till 9 months of age, but unfortunately she died of Reye's like syndrome. Case 2 was 31 year old male (at the time of death). He was admitted to our hospital because of hyperammonemia and mental retardation. By subsequent laboratory investigations he was diagnosed as having adult type of citrullinemia and died of hepatoma. Enzymological analysis revealed that argininosuccinate synthetase (ASS) activities in the liver tissues of the patients decreased to 40% (Case 1), 20% (Case 2) compared with those in control liver tissues. The other urea cycle enzyme activities were all within normal range. ASS activities in the kidney and brains of the two cases were within normal range. The kinetic constant values of ASS for three substrates in the tissues of liver and kidney were all normal. Results of immunochemical analyses indicated that citrullinemia in our patients was caused by a quantitative deficiency of ASS associated proteins of the liver and kidney tissues as to the molecular weight.
报告了两例瓜氨酸血症病例。病例1为一名1个月大的女性。其临床病程和表现与主要在白种人国家报道的暴发性新生儿瓜氨酸血症不同。我们的患者在低蛋白饮食和必需氨基酸治疗下情况良好，直至9个月大，但不幸的是她死于瑞氏综合征样疾病。病例2为一名31岁男性（死亡时）。他因高氨血症和智力发育迟缓入院。通过后续实验室检查，他被诊断为成人型瓜氨酸血症，并死于肝癌。酶学分析显示，与对照肝脏组织相比，患者肝脏组织中的精氨琥珀酸合成酶（ASS）活性分别降至40%（病例1）、20%（病例2）。其他尿素循环酶活性均在正常范围内。两例患者肾脏和大脑中的ASS活性在正常范围内。肝脏和肾脏组织中ASS对三种底物的动力学常数均正常。免疫化学分析结果表明，我们患者的瓜氨酸血症是由肝脏和肾脏组织中ASS相关蛋白分子量的定量缺乏引起的。
