TY - JOUR
T1 - Stable isotope dilution analysis of 4‐hydroxybutyric acid
T2 - An accurate method for quantification in physiological fluids and the prenatal diagnosis of 4‐hydroxybutyric aciduria
AU - Gibson, K. M.
AU - Aramaki, S.
AU - Sweetman, L.
AU - Nyhan, W. L.
AU - DeVivo, D. C.
AU - Hodson, A. K.
AU - Jakobs, C.
PY - 1990/2
Y1 - 1990/2
N2 - 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.
AB - 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.
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U2 - 10.1002/bms.1200190207
DO - 10.1002/bms.1200190207
M3 - Article
C2 - 2407302
AN - SCOPUS:0025257343
SN - 1052-9306
VL - 19
SP - 89
EP - 93
JO - Biological Mass Spectrometry
JF - Biological Mass Spectrometry
IS - 2
ER -