酰基甘氨酸的合成与表征。通过气相色谱 - 质谱法对单个血斑进行测定以诊断先天性代谢缺陷。

Synthesis and characterisation of acyl glycines. Their measurement in single blood spots by gas chromatography-mass spectrometry to diagnose inborn errors of metabolism.

作者信息

Bonham Carter S M, Watson D G, Midgley J M, Logan R W

机构信息

Department of Pharmaceutical Sciences, University of Strathclyde, Glasgow, UK.

出版信息

J Chromatogr B Biomed Appl. 1996 Feb 23;677(1):29-35. doi: 10.1016/0378-4347(95)00415-7.

DOI:10.1016/0378-4347(95)00415-7

PMID:8925099

Abstract

Acyl glycines are normally minor metabolites of fatty acids; however, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. Therefore measurement of the metabolites in body fluids can be used to diagnose these metabolic disorders. The chemical synthesis of a range of acyl glycines is described, together with that of their 13C2-isotopomers for use as internal standards. An analytical method for the measurement of hexanoyl, octanoyl, 3-phenylpropionyl and suberyl glycines in urine, employing gas chromatography-mass spectrometry with negative-ion chemical ionisation was adapted to measure a larger range of acyl glycines in a single blood spot on a standard Guthrie card. Diagnoses of a case of medium-chain acyl-CoA dehydrogenase deficiency and a case of isovaleric acidaemia were confirmed using a single blood spot from each patient.

摘要

酰基甘氨酸通常是脂肪酸的次要代谢产物；然而，在几种先天性代谢缺陷中，某些酰基甘氨酸的排泄量会增加。因此，测量体液中的这些代谢产物可用于诊断这些代谢紊乱。本文描述了一系列酰基甘氨酸及其用作内标的13C2-同位素异构体的化学合成方法。采用负离子化学电离的气相色谱-质谱联用技术测定尿液中己酰、辛酰、3-苯丙酰和辛二酰甘氨酸的分析方法，经过改进后可用于测定标准格思里卡片上单个血斑中更大范围的酰基甘氨酸。使用每位患者的单个血斑确诊了1例中链酰基辅酶A脱氢酶缺乏症和1例异戊酸血症病例。