Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS

J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Jul 15;870(2):160-3. doi: 10.1016/j.jchromb.2008.02.022. Epub 2008 Mar 4.

Abstract

Propionic acidemia is a frequent inborn error of metabolism. Methylcitric acid, a key indicator of propionic acidemia, increases in the amniotic fluid of affected fetuses. For prenatal diagnosis, the methylcitric acid in amniotic fluid can be measured by stable-isotope dilution GC/MS. Here, we quantified this indicator in samples of amniotic fluid that had been dried on filter paper and transported at ambient temperatures, and compared the results with data obtained from the original amniotic fluid. We then used the filter-paper method to screen at-risk fetuses and obtained a clear-cut diagnosis in each case.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amniotic Fluid / chemistry*
  • Citrates / analysis*
  • Gas Chromatography-Mass Spectrometry / methods*
  • Humans
  • Prenatal Diagnosis / methods*
  • Propionates / blood*

Substances

  • Citrates
  • Propionates
  • 2-methylcitric acid