Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects
Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects
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DOI：
10.1016/j.ymgme.2004.04.009
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发表时间：
2004-07-01
影响因子：
3.8
通讯作者：
Ribes, A
中科院分区：
文献类型：
--
作者：
Arias, A;Garcia-Villoria, J;Ribes, A
建立了以稳定同位素为内标物的气相色谱-质谱联用测定胍基乙酸盐和肌酸的分析方法。该方法具有良好的精密度和高灵敏度，它需要最少的样品处理。我们测定了尿液和血浆中的参考值。随着年龄的增长，尿中胍基乙酸浓度和肌酸/肌酐比值均降低，但血浆中无显著差异。此外，分析了15例尿素循环缺陷患者，与年龄匹配的对照组相比，显示出较低的胍基乙酸浓度。我们的结论是，胍乙酸浓度是一个参数，以考虑在后续的尿素循环缺陷的患者，精氨酸应补充足够的量，因为大脑似乎是不可渗透的肌酸流入，但不是它的前体，精氨酸，这是需要肌酸，蛋白质和NO的合成。(C)2004年爱思唯尔公司All rights reserved.
We established an analytical methodology for guanidinoacetate and creatine determination by gas chromatography-mass spectrometry with the use of stable isotopes as internal standards. The method showed good precision and high sensitivity, and it requires minimal sample handling. We determined the reference values in urine and plasma. In urine both guanidinoacetate concentration and creatine/creatinine ratio decrease as age increases, but no significant differences were found in plasma. In addition, 15 patients with urea cycle defects were analysed and showed low guanidinoacetate concentrations when compared with age-matched controls. We concluded that guanidinoacetate concentration is a parameter to be considered in the follow-up of patients with urea cycle defects, and arginine should be supplemented in sufficient amounts, as the brain seems to be impermeable to creatine influx, but not to its precursor, arginine, which is needed for creatine, protein, and NO synthesis. (C) 2004 Elsevier Inc. All rights reserved.