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异戊酸血症(IVA)是一种比较常见的有机酸血症,为常染色体隐性遗传病。主要是由于异戊酰辅酶A脱氢酶(isvaleryl-CoA dehydrogenase,IVD)的先天性缺陷,导致亮氨酸代谢的第三步——异戊酰辅酶A转化为3-甲基巴豆酰辅酶A途径中断,从而使其上游物质异戊酰辅酶A及其代谢产物3-羟基异戊酸、异戊酰甘氨酸、异戊酰肉碱等异常增高,引起机体损伤〔1〕。近年来,随着质谱技术和基因学诊断技术在临床上的应用,越来越多的IVA患儿可以得到早期诊断和治疗,使IVA患儿病死率及后遗症的发生率明显改善。该文将异戊酸血症患儿代谢异常及基因突变与临床症状的相互关系做一个综述。
Isovalalmia (IVA) is a common organic acidosis, autosomal recessive disease. Mainly due to the congenital deficiency of isvaleryl-CoA dehydrogenase (IVD), the third step leading to leucine metabolism is the conversion of isovaleryl coenzyme A to 3-methyl crotonyl CoA Way to interrupt, so that its upstream material isovaleryl coenzyme A and its metabolites 3-hydroxy isovalerate, isovaleryl glycine, isovaleryl carnitine and other abnormalities increased, causing damage to the body 〔1〕. In recent years, with the clinical application of mass spectrometry and gene diagnosis techniques, more and more patients with IVA can get early diagnosis and treatment, so that the incidence of mortality and sequelae of children with IVA is significantly improved. This article will be a review of the relationship between metabolic abnormalities and gene mutations and clinical symptoms in children with isovaleric.