Carter S M, Midgley J M, Watson D G, Logan R W
Department of Pharmacy, University of Strathclyde, Glasgow, UK.
J Pharm Biomed Anal. 1991;9(10-12):969-75. doi: 10.1016/0731-7085(91)80032-5.
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty acid metabolism, which is difficult to diagnose, partly because of its unpredictable clinical presentation. A specific diagnostic marker is an increased excretion of certain medium chain acyl glycines. A sensitive and specific method has been developed for the extraction, derivatization, identification and quantitation of urinary medium chain acyl glycines by gas chromatography-negative ion chemical ionization mass spectrometry (GC-NICIMS). The following series of standard acyl glycines has been synthesized and characterized: hexanoyl, octanoyl, 3-phenylpropionyl and suberyl and their respective isotopomers (using 13C2-glycine; for use as internal standards). The range of excretion of these compounds in normal subjects has been established using this method and increased excretion of acyl glycines, particularly hexanoyl, 3-phenylpropionyl and suberyl was successfully demonstrated in three MCAD deficient subjects from one family.
中链酰基辅酶A脱氢酶（MCAD）缺乏症是一种脂肪酸代谢的先天性疾病，难以诊断，部分原因是其临床表现不可预测。一种特定的诊断标志物是某些中链酰基甘氨酸排泄增加。已开发出一种灵敏且特异的方法，通过气相色谱-负离子化学电离质谱法（GC-NICIMS）对尿中中链酰基甘氨酸进行提取、衍生化、鉴定和定量。已合成并表征了以下一系列标准酰基甘氨酸：己酰基、辛酰基、3-苯丙酰基和辛二酰基及其各自的同位素异构体（使用13C2-甘氨酸；用作内标）。使用该方法确定了正常受试者中这些化合物的排泄范围，并在来自一个家族的三名MCAD缺乏症患者中成功证明了酰基甘氨酸排泄增加，尤其是己酰基、3-苯丙酰基和辛二酰基。
