Stable isotope dilution analysis of 4‐hydroxybutyric acid: An accurate method for quantification in physiological fluids and the prenatal diagnosis of 4‐hydroxybutyric aciduria

K. M. Gibson, S. Aramaki, L. Sweetman, W. L. Nyhan, D. C. DeVivo, A. K. Hodson, C. Jakobs

Research output: Contribution to journalArticlepeer-review

90 Scopus citations

Abstract

A quantitative assay for 4‐hydroxybutyric acid was developed using D6‐4‐hydroxybutyric acid as an internal standard. 4‐Hydroxybutyric acid was isolated by liquid chromatography and the amount quantified by selected ion monitoring, ammonia chemical ionization gas chromatography/mass spectrometry of the trimethylsilyl derivatives. The concentrations of 4‐hydroxybutyric in control physiological fluids were: 2.64 ± 3.46 mmol mol−1 creatinine in urine, 1.09 ± 2.87 μmol l−1 in plasma, 0.98 ± 1.17 μmol l−1 in cerebrospinal fluid and 1.28 ± 0.47 μmol l−1 in amniotic fluid. The concentration of 4‐hydroxybutyric acid in the amniotic fluid from a pregnancy at risk for 4‐hydroxybutyric aciduria was 2.30 μmol l−1, indicating an unaffected fetus. The stable isotope dilution assay of 4‐hydroxybutyric acid in physiological fluid samples is a rapid, sensitive and accurate method for quantification, as well as a valuable technique for the prenatal diagnosis of 4‐hydroxybutyric aciduria.

Original languageEnglish (US)
Pages (from-to)89-93
Number of pages5
JournalBiological Mass Spectrometry
Volume19
Issue number2
DOIs
StatePublished - Feb 1990
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine

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