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

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.

• Authors: C Jakobs, L Sweetman, W L Nyhan
• Journal: Prenatal diagnosis (Prenat Diagn) 1984 May-Jun Vol. 4 Issue 3 Pg. 187-94 ISSN: 0197-3851 [Print] England
• PMID: 6463026 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

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

Topics

• 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)