Aramaki S, Lehotay D, Nyhan W L, MacLeod P M, Sweetman L
Department of Pediatrics, University of California, San Diego, La Jolla 92093.
J Inherit Metab Dis. 1989;12(1):86-8. doi: 10.1007/BF01805535.
Patients homozygous for propionic acidaemia have high levels of methylcitric acid in urine while heterozygotes have normal levels. Methylcitric acid was determined by stable isotope dilution gas chromatography-mass spectrometry in maternal urine during a pregnancy with a fetus affected with propionic acidaemia. Although the levels increased linearly between 23 and 39 weeks of gestation, the levels were not significantly elevated above normal until after 30 weeks of gestation. Thus, determination of methylcitric acid in maternal urine is not of value for early prenatal diagnosis of propionic acidaemia.
丙酸血症纯合子患者尿液中甲基柠檬酸水平较高，而杂合子患者尿液中甲基柠檬酸水平正常。在一名胎儿患有丙酸血症的孕妇孕期，采用稳定同位素稀释气相色谱-质谱法测定其母尿中的甲基柠檬酸。尽管在妊娠23至39周期间，甲基柠檬酸水平呈线性增加，但直到妊娠30周后，其水平才显著高于正常水平。因此，测定母尿中的甲基柠檬酸对丙酸血症的早期产前诊断没有价值。
