Coker M, de Klerk J B, Poll-The B T, Huijmans J G, Duran M
Erasmus University, Department of Clinical Genetics, Rotterdam, The Netherlands.
J Inherit Metab Dis. 1996;19(6):743-51. doi: 10.1007/BF01799166.
Total plasma odd-numbered long-chain fatty acids were analysed in patients with methylmalonic acidaemia (vitamin B12-responsive and unresponsive), combined methylmalonic acidaemia/homocystinuria (CblC), propionic acidaemia (both neonatal-onset and late-onset), biotinidase deficiency and holocarboxylase synthase deficiency, as well as in hospital controls. Total odd-numbered long-chain fatty acids (C15:0, C17:1 and C17:0) were expressed as a percentage of total C12-C20 fatty acids. Control values were 0.72% +/- 0.31% (n = 12). Normalization of the percentage of odd-chain fatty acids occurred in all vitamin-responsive patients, following the institution of vitamin treatment. In general the neonatal-onset propionic acidaemia and B12-unresponsive methylmalonic acidaemia patients had the highest plasma odd-chain fatty acid concentrations, which correlated with the clinical condition but not with the urinary excretion of methylcitrate or methylmalonate. Plasma odd-chain fatty acid concentrations and methylmalonate excretions in CblC patients reacted very well to vitamin B12 treatment, but with no clinical response. Measurement of plasma odd-chain fatty acids is of no value for the monitoring of defects of biotin metabolism.
对患有甲基丙二酸血症（维生素B12反应性和无反应性）、合并甲基丙二酸血症/高胱氨酸尿症（CblC）、丙酸血症（新生儿期发病和晚期发病）、生物素酶缺乏症和全羧化酶合成酶缺乏症的患者以及医院对照组的血浆总奇数碳链长链脂肪酸进行了分析。总奇数碳链长链脂肪酸（C15:0、C17:1和C17:0）以总C12 - C20脂肪酸的百分比表示。对照值为0.72%±0.31%（n = 12）。在所有维生素反应性患者中，维生素治疗开始后，奇数链脂肪酸百分比恢复正常。一般来说，新生儿期发病的丙酸血症和维生素B12无反应性甲基丙二酸血症患者的血浆奇数链脂肪酸浓度最高，这与临床状况相关，但与甲基柠檬酸或甲基丙二酸的尿排泄无关。CblC患者的血浆奇数链脂肪酸浓度和甲基丙二酸排泄对维生素B12治疗反应良好，但无临床反应。血浆奇数链脂肪酸的测定对生物素代谢缺陷的监测没有价值。
