A rapid method for assay of branched-chain keto acid decarboxylation in cultured cells and its application to prenatal diagnosis of maple syrup urine disease.
A sensitive assay for measurement of branched-chain keto acid decarboxylation in small numbers of fibroblasts or amniotic cells grown in the wells of a microtitre plate using [1-14C]leucine as substrate is described. The method was applied to the amniotic cells from a pregnancy at risk for maple syrup urine disease and a heterozygous fetus predicted.
D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D003653:Decarboxylation; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007651:Keto Acids / Q000378:metabolism*; D007930:Leucine / Q000378:metabolism; D008375:Maple Syrup Urine Disease / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis
D007651:Keto Acids; D007930:Leucine