STABLE ISOTOPE-DILUTION ANALYSIS OF 4-HYDROXYBUTYRIC ACID - AN ACCURATE METHOD FOR QUANTIFICATION IN PHYSIOLOGICAL FLUIDS AND THE PRENATAL-DIAGNOSIS OF 4-HYDROXYBUTYRIC ACIDURIA

被引：89

作者：

GIBSON, KM

ARAMAKI, S

SWEETMAN, L

NYHAN, WL

DEVIVO, DC

HODSON, AK

JAKOBS, C

机构：

[1] BAYLOR UNIV,MED CTR,BAYLOR RES FDN,WACO,TX 76798

[2] UNIV CALIF SAN DIEGO,DEPT PEDIAT,DIV BIOCHEM GENET,LA JOLLA,CA 92093

[3] NEUROL INST,NEW YORK,NY 10032

[4] NEMOURS CHILDRENS CLIN,DEPT PEDIAT,DIV NEUROL,JACKSONVILLE,FL

[5] FREE UNIV AMSTERDAM,ACAD HOSP,DEPT PEDIAT,1007 MB AMSTERDAM,NETHERLANDS

来源：

BIOMEDICAL AND ENVIRONMENTAL MASS SPECTROMETRY | 1990年 / 19卷 / 02期

关键词：

D O I：

10.1002/bms.1200190207

中图分类号：

O433 [光谱学];

学科分类号：

0703 ; 070302 ;

摘要：

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. Copyright © 1990 John Wiley & Sons, Ltd.

引用

页码：89 / 93

页数：5

共 13 条

[1] A NEW PATIENT WITH 4-HYDROXYBUTYRIC ACIDURIA, A POSSIBLE DEFECT OF 4-AMINOBUTYRATE METABOLISM [J].