Detection of errors in methylmalonyl CoA metabolism by using amniotic fluid

Academic Article

Abstract

  • We report a method for rapid prenatal detection of methylmalonic acidemia, consisting of measuring methylmalonyl-CoA mutase (EC 5.4.99.2) activity in non-cultured amniotic cells and measuring the concentration of methylmalonate in the amniotic fluid. Immediate stabilization of the mutase activity in the non-cultured amniotic cell by its coenzyme, adenosylcobalamin, and use of methylmalonyl-CoA with high specific activity gives mutase activity comparable to that of cultured amniotic cells or normal fibroblasts. Consequently, findings of low mutase activity and a high concentration of methylmalonate in the amniotic fluid allows accurate diagnosis of the vitamin B12-nonresponsive form of methylmalonic acidemia. These results can be obtained in two days. For the vitamin B12 responsive form, the correct diagnosis depends upon finding amniotic fluid methylmalonate, because cells from these patients will display normal methylmalonyl-CoA mutase activity after adenosylcobalamin is added. Problems in interpreting data on bloody samples and the limitations of the method are discussed.
  • Digital Object Identifier (doi)

    Pubmed Id

  • 17224340
  • Author List

  • Morrow G; Revsin B; Lebowitz J; Britt W; Giles H
  • Start Page

  • 791
  • End Page

  • 795
  • Volume

  • 23
  • Issue

  • 5