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首页> 外文期刊>International Journal of Neonatal Screening >A Rapid and Sensitive UPLC-MS/MS-Method for the Separation and Quantification of Branched-Chain Amino Acids from Dried Blood Samples of Patients with Maple Syrup Urine Disease (MSUD)
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A Rapid and Sensitive UPLC-MS/MS-Method for the Separation and Quantification of Branched-Chain Amino Acids from Dried Blood Samples of Patients with Maple Syrup Urine Disease (MSUD)

机译：快速，灵敏的UPLC-MS / MS-方法从枫糖浆尿病（MSUD）患者干血中分离和定量支链氨基酸

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Newborn screening for MSUD is a special challenge since patients with MSUD can metabolically decompensate rapidly without adequate treatment within the first two weeks of life. However, the screening method does not detect the actual marker metabolite (alloisoleucine) specifically, but only as part of the group of the other isobaric amino acids leucine, isoleucine and hydroxyproline. We describe a sensitive and rapid second-tier UPLC-MS/MS method to determine branched-chain amino acids from the initial extraction of the screening sample. Quantification is based on a seven-point calibration curve. Reference ranges (mean ???± SD in ???μmol/L) were determined from 179 normal, not pre-selected samples from the newborn screening: leucine: 72 ???± 27; isoleucine: 37 ???± 19; valine: 98 ???± 46; hydroxyproline: 23 ???± 13. The concentration of alloisoleucine was below the detection limit in about 55% of the cases, and the highest concentration was 1.9 ???μmol/L. In all 30 retrospectively studied screening samples from patients with confirmed MSUD the concentration of alloisoleucine was significantly increased. In 238 samples with false-positive newborn screening due to a significant increase in the combined concentration of leucine + isoleucine + alloisoleucine + hydroxyproline (400 to >4000 ???μmol/L), alloisoleucine was below 6.5 ???μmol/L ( n = 57) or not detectable ( n = 181). The application of this assay markedly reduces the false-positive rate and the associated anxiety and costs. It is also suitable for routinely monitoring blood spots of patients with MSUD.
机译：新生儿筛查MSUD是一个特殊的挑战，因为MSUD患者在生命的前两周内可能会迅速代谢失代偿，而没有进行适当的治疗。但是，该筛选方法不能特异性地检测实际的标记代谢物（别称异亮氨酸），而只能作为其他同量异位氨基酸亮氨酸，异亮氨酸和羟脯氨酸的一部分。我们描述了一种灵敏且快速的第二层UPLC-MS / MS方法，可从筛选样品的初次提取中确定支链氨基酸。定量基于七点校准曲线。参照范围（μmol/ L的平均值±SD）是从新生儿筛查的179个正常的，不是预先选择的样品中确定的：亮氨酸：72±27;异亮氨酸：37±19;缬氨酸：98±46;羟脯氨酸：23±13。在约55％的情况下，别石氨酸的浓度低于检出限，最高浓度为1.9μmol/ L。在所有30例经确诊MSUD的患者中进行的回顾性研究筛查样本中，异亮氨酸的浓度均显着增加。在238个因新生儿亮氨酸+异亮氨酸+异苏氨酸+羟脯氨酸+羟脯氨酸的组合浓度显着增加（400至> 4000μmol/ L）而导致的新生儿假阳性筛查样本中，异亮氨酸低于6.5μmol/ L（ n = 57）或不可检测（n = 181）。该测定法的应用显着降低了假阳性率以及相关的焦虑和成本。它还适用于常规监测MSUD患者的血斑。

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