Walter J H, Thompson G N, Leonard J V, Heatherington C S, Bartlett K
Department of Child Health, Institute of Child Health, London, UK.
Clin Chim Acta. 1989 Jun 30;182(2):141-50. doi: 10.1016/0009-8981(89)90073-9.
The outcome for children with inherited disorders of propionate metabolism is poor. To facilitate development of improved treatment in these conditions, we described techniques for the estimation of the rate of production and removal of propionate in vivo. Propionate turnover was determined in 4 healthy adults using continuous infusions of sodium [2H5]propionate and sodium [13C]propionate. The mean fasting plasma propionate concentration measured by a sensitive technique employing high performance liquid chromatography, following a two-stage extraction procedure and derivatisation with bromophenacyl bromide, was 3.3 mumol/l (SD 0.5). The isotopic enrichment of the bromophenacyl propionate derivative was measured by gas chromatography/mass spectrometry and mean propionate turnover was calculated to be 17.6 mumol/kg per h (SD 5.9). These methods allow rapid (less than 3 h) assessment of propionate turnover in man and are suitable for application in children with inherited disorders of propionate metabolism.
患有遗传性丙酸代谢紊乱的儿童预后较差。为了促进在这些情况下改进治疗方法的开发，我们描述了体内丙酸生成和清除速率的估算技术。使用[2H5]丙酸钠和[13C]丙酸钠连续输注，测定了4名健康成年人的丙酸周转率。采用高效液相色谱的灵敏技术，经过两阶段萃取程序并用溴苯甲酰溴衍生化后，测得的空腹血浆丙酸平均浓度为3.3 μmol/L（标准差0.5）。通过气相色谱/质谱法测定溴苯甲酰丙酸衍生物的同位素富集度，计算出丙酸平均周转率为17.6 μmol/（kg·h）（标准差5.9）。这些方法可以快速（少于3小时）评估人体中的丙酸周转率，适用于患有遗传性丙酸代谢紊乱的儿童。
