【摘要】 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。更多还原

【Abstract】 Multiple carboxylase deficiency (MCD) is an autosomal recessive disorder of inherited metabolic diseases.Depending on deficiency of the enzyme,MCD is divided into two kinds of different forms,biotinidase deficiency (BTD,OMIM 253260) and HLCS deficiency (HLCSD,OMIM 253270).Thus far more than 80 mutations in the gene of biotinidase and more than 20 mutations in the holocarboxylase synthetase gene have been reported.The mutation analysis could play a key role in the prenatal diagnosis and gene diagnosis to predict clinical phenotype and evaluate the treatment effect.This review focuses on the worldwide advancement in the mutational analysis of MCD.更多还原