Wu Tong-Fei, Yang Yan-Ling
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. organic
Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):954-9.
Argininemia is a rare, autosomal recessive, metabolic disorder caused by an hereditary deficiency of hepatocytes arginase due to ARG1 gene defect. Arginase is the final enzyme in the urea cycle, catalyzing the hydrolysis of arginine to ornithine and urea. Research advances in the clinical manifestations, diagnosis, treatment, prenatal diagnosis and genetics of argininemia were reviewed in this paper. The clinical manifestations of patients with argininemia are complicated and nonspecific so that clinical diagnosis is usually difficult and delayed. Progressive spastic tetraplegia, seizures and cerebella atrophy are common clinical features of the disease. Blood amino acids analysis, arginase assay and ARG1 gene analysis are important to the diagnosis of argininemia. Early diagnosis and a protein-restricted diet with citrulline and benzoate supplements can contribute a lot to improve patient prognosis. With the application of liquid chromatography-tandem mass spectrometry in selective screening and newborn screening for inborn errors of metabolism, an ever-increasing number of patients with argininemia are detected at the asymptomatic or early stages.
精氨酸血症是一种罕见的常染色体隐性代谢紊乱疾病，由ARG1基因缺陷导致肝细胞精氨酸酶遗传性缺乏引起。精氨酸酶是尿素循环中的终末酶，催化精氨酸水解为鸟氨酸和尿素。本文综述了精氨酸血症在临床表现、诊断、治疗、产前诊断及遗传学方面的研究进展。精氨酸血症患者的临床表现复杂且无特异性，因此临床诊断通常困难且延迟。进行性痉挛性四肢瘫、癫痫发作和小脑萎缩是该疾病常见的临床特征。血液氨基酸分析、精氨酸酶检测及ARG1基因分析对精氨酸血症的诊断很重要。早期诊断以及给予含瓜氨酸和苯甲酸盐补充剂的蛋白质限制饮食对改善患者预后有很大帮助。随着液相色谱-串联质谱法在先天性代谢缺陷的选择性筛查和新生儿筛查中的应用，越来越多的精氨酸血症患者在无症状或疾病早期被检测出来。
