Duran M, Gompertz D, Bruinvis L, Ketting D, Wadman S K
Clin Chim Acta. 1978 Jan 2;82(1-2):93-9. doi: 10.1016/0009-8981(78)90030-x.
Random urine samples from eight patients with propionicacidaemia were analyzed by gas chromatography and mass spectrometry in order to see if a consistent metabolite pattern with a high diagnostic value could be found. However, wide variations were observed. The presence of 3-hydroxypropionate and/or methylcitrate were considered to be diagnostic of propionyl-CoA carboxylase deficiency. In addition, samples from ketotic periods frequently contained 3-hydroxy-n-valerate and 3-oxo-n-valerate.
为了确定是否能找到具有高诊断价值的一致代谢物模式，对8名丙酸血症患者的随机尿液样本进行了气相色谱和质谱分析。然而，观察到了很大的差异。3-羟基丙酸和/或甲基柠檬酸的存在被认为可诊断为丙酰辅酶A羧化酶缺乏。此外，酮症期的样本中经常含有3-羟基正戊酸和3-氧代正戊酸。
