[亚急性瓜氨酸血症——至4岁时的诊断与病程]

[Subacute citrullinemia--diagnosis and course up to 4th year of life].

作者信息

Clemens P, Hellwege H H, Bentele K H, Heddrich M

出版信息

Klin Padiatr. 1984 Jan-Feb;196(1):55-7. doi: 10.1055/s-2007-1025576.

DOI:10.1055/s-2007-1025576

Abstract

The article reports on an infant which first in age of nine months and then again in age of 1.6 years had an episode of stupor. Laboratory investigation showed hyperammonemia and high values of transaminases. The differential diagnostic check up led to the diagnosis of citrullinemia in the age of 1.7 years by amino acid chromatography. The diagnosis could be confirmed by measuring enzyme activity in the liver. Therapy is protein-low feeding and supplementation of essential amino acids and arginine. A therapeutic trial with additional sodium benzoate did not show a positive effect. The patient made a significant step backwards in development during the second episode of stupor; however in the following months the retardation could be reduced markedly.

摘要

该文章报道了一名婴儿，其在9个月大时首次出现昏迷，1.6岁时再次出现昏迷。实验室检查显示高氨血症和转氨酶值升高。通过氨基酸色谱法在1.7岁时进行鉴别诊断检查，确诊为瓜氨酸血症。通过测量肝脏中的酶活性可确诊。治疗方法是低蛋白饮食并补充必需氨基酸和精氨酸。额外使用苯甲酸钠的治疗试验未显示出积极效果。患者在第二次昏迷发作期间发育出现显著倒退；然而在接下来的几个月里，发育迟缓明显减轻。