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

Clin Chim Acta. 1978 Jul 1;87(1):169-74. doi: 10.1016/0009-8981(78)90072-4.

Abstract

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.

MeSH terms

  • Amniotic Fluid / cytology
  • Cells, Cultured
  • Decarboxylation
  • Female
  • Fibroblasts / metabolism
  • Heterozygote
  • Homozygote
  • Humans
  • Keto Acids / metabolism*
  • Leucine / metabolism
  • Maple Syrup Urine Disease / diagnosis*
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • Keto Acids
  • Leucine