van der Heiden C, Bakker H D, Desplanque J, Brink M, de Bree P K, Wadman S K
Eur J Pediatr. 1978 Jul 19;128(4):261-72. doi: 10.1007/BF00445611.
Dietary treatment of a male patient suffering from the delayed-onset type of OCT deficiency was attempted. Control of the hyperammonemia was attempted by restriction of protein intake, guided by monitoring the plasma ammonia and regular checking of the serum amino acid levels. The influence of supplementary citric acid or lactulose therapy on the plasma ammonia level was investigated and found to be negligible. The therapeutic effect of supplying ornithine and arginine (an essential amino acid in urea cycle disorders) is described. Despite intensive dietary treatment over two and a half years, a incorrigible hyperammonemic crisis resulted in the sudden death of our patient.
我们尝试对一名患有迟发型鸟氨酸氨基甲酰转移酶(OCT)缺乏症的男性患者进行饮食治疗。通过限制蛋白质摄入来控制高氨血症,以血浆氨监测和定期检查血清氨基酸水平为指导。研究了补充柠檬酸或乳果糖疗法对血浆氨水平的影响,发现其影响可忽略不计。描述了补充鸟氨酸和精氨酸(尿素循环障碍中的一种必需氨基酸)的治疗效果。尽管进行了两年半的强化饮食治疗,但一场无法控制的高氨血症危机导致我们的患者突然死亡。