多种酯酰辅酶A脱氢酶缺乏症基因型与表现型关系研究进展

Research progress in the relationship between genotype and phenotype of multiple acyl-coenzyme A dehydrogenase deficiency

多种酯酰辅酶A脱氢酶缺乏症(MADD)是一种脂肪酸、氨基酸及胆固醇代谢障碍的常染色体隐性遗传性疾病。其临床表现多样,可分为3种临床类型。MADD多是由于电子转移黄素蛋白(ETF)或电子转移黄素蛋白脱氢酶(ETFDH)的基因突变而导致的。目前研究发现MADD基因突变谱庞大,异质性强,突变形式复杂。本文主要对MADD基因型与表现型相关性进行综述。

Multiple acyl-coenzyme A dehydrogenase deficiency(MADD) is a kind of autosomal recessive genetic disease which with fatty acids, amino acids and cholesterol metabolism disorder. Its clinical manifestation is diversiform, it can be divided into three clinical types. MADD caused by gene mutations of the electron transfer flavoprotein(ETF) or electron transfer flavoprotein dehydrogenase(ETFDH). Current study found that the gene mutation is heterogeneous and complex. This article mainly discussed the correlation between the genotype and phenotype of MADD.