Jakobs C, Sweetman L, Wadman S K, Duran M, Saudubray J M, Nyhan W L
Eur J Pediatr. 1984 Jan;141(3):153-7. doi: 10.1007/BF00443213.
A method for the measurement of dicarboxylic acids in amniotic fluid was developed that utilizes isolation of the acids by liquid partition chromatography and quantification by ammonia chemical ionization selected ion monitoring, gas chromatography-mass spectrometry. The concentrations of dicarboxylic acids in ten normal samples of amniotic fluid (mumol/l +/- 1 S.D.) were glutaric acid 0.91 +/- 0.15, adipic acid 0.33 +/- 0.08, suberic acid 0.27 +/- 0.08, and sebacic acid 0.21 +/- 0.10. A highly elevated concentration of 14.48 mumol/l glutaric acid was found in the amniotic fluid of a pregnancy in which the fetus was affected with glutaric aciduria type II. Adipic, suberic and sebacic acids were also significantly elevated. The dicarboxylic acids were normal in the amniotic fluid of a pregnancy at risk for glutaric aciduria type II in which the fetus was unaffected. This method is suitable for the rapid prenatal diagnosis of glutaric aciduria types I and II and of potential value for the prenatal diagnosis of other inherited disorders in which dicarboxylic acids accumulate.
开发了一种测量羊水二羧酸的方法，该方法利用液液分配色谱法分离这些酸，并通过氨化学电离选择离子监测气相色谱 - 质谱法定量。十个正常羊水样本中二羧酸的浓度（μmol/L ± 1标准差）分别为：戊二酸0.91 ± 0.15、己二酸0.33 ± 0.08、辛二酸0.27 ± 0.08和癸二酸0.21 ± 0.10。在一名胎儿患有II型戊二酸尿症的孕妇羊水中，发现戊二酸浓度高达14.48 μmol/L。己二酸、辛二酸和癸二酸也显著升高。在一名有II型戊二酸尿症风险但胎儿未受影响的孕妇羊水中，二羧酸水平正常。该方法适用于I型和II型戊二酸尿症的快速产前诊断，对于其他二羧酸积累的遗传性疾病的产前诊断也具有潜在价值。
