甲基丙二酸尿是一种常染色体隐性遗传病,由于甲基丙二酸单酰 CoA(MMCoA)变位酶活性缺陷所致。目前已识别几种不同的类型,一种为MMCoA 变位酶自身缺陷,另一种是辅因子(腺苷维生素 B_(12))合成缺陷。作者检测3对照组绒毛 MMCoA 变位酶活性值,作为甲基丙二酸尿患者产前诊断的基础值。在对照组绒毛中,MMCoA 变位酶活性试验(附加辅 Methylmalonic aciduria is an autosomal recessive disease caused by defects in the activity of the mutated methylmalonyl-CoA (MMCoA) enzyme. At present, several different types have been identified, one is self-defect of MMCoA mutase and the other is deficiency of cofactor (adenosine vitamin B_ (12)) synthesis. The authors examined 3 control group villus MMCoA mutant enzyme activity value, as the basis of prenatal diagnosis of methylmalonic acid in patients with urine. In control villus, MMCoA mutase activity test (supplemented by supplements