An accurate stable isotope dilution gas chromatographic mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency
An accurate stable isotope dilution gas chromatographic mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency
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DOI：
10.1016/s0731-7085(98)00280-5
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发表时间：
1998-12-01
影响因子：
3.4
通讯作者：
Jakobs, C
中科院分区：
文献类型：
--
作者：
Struys, EA;Jansen, EEW;Jakobs, C
描述了一种气相色谱-质谱（GC-MS）方法，用于定量不同体液中的胍基乙酸盐，使用两步衍生化程序，该程序涉及与六氟乙酰丙酮反应形成双（三氟甲基）嘧啶环结构，然后与五氟苄基溴反应。使用C-13（2）标记的胍基乙酸盐作为内标物。双（三氟甲基）嘧啶五氟苄基衍生物分离的极性毛细管气相色谱柱，并使用负化学电离质谱定量。该方法的检测限为100 μ l样品中1 pmol胍基乙酸盐。获得尿液（53.9 +/- 25.9 mmol mol（-1）肌酐）、血浆（1.08 +/- 0.31 μ mol（-1））、脑脊液（CSF）（0.114 +/- 0.068 μ mol（-1））和羊水（3.44 +/- 0.64 μ mol（-1））的对照值。该方法的适用性说明了胍乙酸盐在尿中，血浆和脑脊液中的胍乙酸盐的测定与胍乙酸盐甲基转移酶缺乏症的患者。在该患者的所有体液中，胍基乙酸盐高度升高。(C)1998 Elsevier Science B. V.保留所有权利。
A gas chromatography-mass spectrometry (GC-MS) method is described for the quantification of guanidinoacetate in different body fluids, using a two step derivatisation procedure which involves a reaction with hexafluoroacetylacetone to form a bis(trifluoromethyl)pyrimidine ring structure followed by a reaction with pentafluorobenzyl bromide. C-13(2)-labelled guanidinoacetate is used as an internal standard. Bis(trifluoromethyl)pyrimidine pentafluorobenzyl derivatives were separated on a polar capillary GC-column and were quantified using negative chemical ionisation mass fragmentography. The detection limit of the method is 1 pmol guanidinoacetate in a 100 mu l sample. Control values were obtained for urine (53.9 +/- 25.9 mmol mol(-1) creatinine), plasma (1.08 +/- 0.31 mu mol l(-1)), cerebrospinal fluid (CSF) (0.114 +/- 0.068 mu mol l(-1)) and amniotic fluid (3.44 +/- 0.64 mu mol l(-1)). The applicability of the method is illustrated by the determination of guanidinoacetate in urine, plasma and CSF of a patient affected with guanidinoacetate methyltransferase deficiency. In all body fluids of this patient, guanidinoacetate was highly elevated. (C) 1998 Elsevier Science B.V. All rights reserved.