Abstract:

Organic acidurias（OA） are a group of diseases that cause carboxylic acid accumulation due to some enzyme deficiencies in the metabolic process，and they are  also one of the most common hereditary metabolic diseases. The clinical characteristics of this kind of disease lack specificity and acute attack can occur under some metabolic pressures，such as metabolic acidosis，hypoglycemia，hyperammonia，acute encephalopathy，and even sudden death. With the development of tandem mass spectrometry and gas phase mass spectrometry，and the prevalence of screening for genetic metabolic diseases in neonates，more and more OA have been discovered and enough attention has been paid to this disease by medical workers. The relationship between organic acid metabolic diseases with sudden death and critical illness was analyzed in this paper.

Key words: organic acidurias, sudden-death, critical illness, diagnosis

摘要：

有机酸代谢病是一组由于三大物质代谢过程中某些酶缺陷导致羧基酸蓄积的疾病，亦是最常见的遗传代谢病之一。该类疾病临床特征缺乏特异性，在某些代谢压力下，可以急性发作，出现代谢性酸中毒、低血糖、高氨血症、急性脑病等危重症，甚至猝死。随着串联质谱及气相质谱技术的发展及新生儿遗传代谢病筛查的普及，有机酸代谢病越来越受到医疗工作者的关注。文章就有机酸代谢病与猝死及危重症的关系进行分析。

关键词: 有机酸代谢病, 猝死, 危重症, 诊断