Chemical analysis of succinylacetone and 4-hydroxyphenyllactate in amniotic fluid using selective ion monitoring

Prenat Diagn. 1984 May-Jun;4(3):187-94. doi: 10.1002/pd.1970040305.

Abstract

A method for the measurement of the concentration of succinylacetone and 4-hydroxyphenyllactic acid in amniotic fluid was developed for the prenatal diagnosis of hereditary tyrosinemia. Succinylacetone was converted to 5-methyl-3-isoxazolepropionic acid and isolated with 4-hydroxyphenyllactic acid by liquid partition chromatography and the trimethylsilyl derivatives quantified by ammonia chemical ionization selected ion monitoring gas chromatography-mass spectrometry with 2-hydroxy-n-caproic acid as the internal standard. The concentration of 4-hydroxyphenyllactic acid in normal amniotic fluid was 1.97 +/- 0.75 (S.D.) mumol/l while succinylacetone was undetectable. A pregnancy at risk for tyrosinemia type II was monitored. The concentration of 4-hydroxyphenyllactic acid was within the normal range and a healthy child was born.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amniotic Fluid / analysis*
  • Female
  • Gas Chromatography-Mass Spectrometry
  • Heptanoates / analysis*
  • Heptanoic Acids / analysis*
  • Humans
  • Phenylpropionates / analysis*
  • Pregnancy
  • Prenatal Diagnosis
  • Tyrosine / blood

Substances

  • Heptanoates
  • Heptanoic Acids
  • Phenylpropionates
  • 4-hydroxyphenyllactic acid
  • Tyrosine
  • succinylacetone