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多种羧化酶缺陷症(MCD)是一种常染色体隐性遗传的先天遗传代谢性疾病。根据缺陷酶的不同,MCD分为生物素酶缺陷和全羧化酶合成酶缺陷两类。目前报道的生物素酶基因突变超过80余种,全羧化酶合成酶基因突变20多种。基因突变的研究对实现产前诊断和基因诊断,预测患儿的临床表型和治疗疗效评估具有非常重要的作用。现将国内外对以上两种MCD基因突变的研究进展简要综述。
A variety of carboxylase deficiency (MCD) is an autosomal recessive inherited metabolic disease. According to the different defective enzymes, MCD is divided into two types of biotin deficiency and full carboxylase enzyme deficiencies. At present, more than 80 kinds of biotin gene mutations have been reported and more than 20 kinds of mutations have been reported in the gene of whole-carboxylase synthase. The study of gene mutation plays an important role in the realization of prenatal diagnosis and gene diagnosis, as well as the prediction of the clinical phenotype and therapeutic efficacy in children. At home and abroad will now be a brief overview of the progress of the above two MCD gene mutations.