STABLE ISOTOPE-DILUTION ANALYSIS OF N-ACETYLASPARTIC ACID IN CSF, BLOOD, URINE AND AMNIOTIC-FLUID - ACCURATE POSTNATAL DIAGNOSIS AND THE POTENTIAL FOR PRENATAL-DIAGNOSIS OF CANAVAN DISEASE
STABLE ISOTOPE-DILUTION ANALYSIS OF N-ACETYLASPARTIC ACID IN CSF, BLOOD, URINE AND AMNIOTIC-FLUID - ACCURATE POSTNATAL DIAGNOSIS AND THE POTENTIAL FOR PRENATAL-DIAGNOSIS OF CANAVAN DISEASE
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DOI：
10.1007/bf01799929
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发表时间：
1991-01-01
影响因子：
4.2
通讯作者：
KLEIJER, WJ
中科院分区：
文献类型：
--
作者：
JAKOBS, C;TENBRINK, HJ;KLEIJER, WJ
本文建立了稳定同位素稀释-正化学电离质谱法测定体液中N-乙酰天冬氨酸的灵敏、选择性的分析方法，建立了控制平均值和范围：尿液19.5和6.6-35.4mU·m-1/mU，血浆0.44和0.17-0.81mU·m-1/L，脑脊液1.51和0.25-2.83mU·m-m o l/L；羊水中N-乙酰天冬氨酸浓度分别为1.27和0.30-2.55-mU·mol/L。对母亲随后的怀孕进行了监测，羊水中N-乙酰天冬氨酸浓度在控制范围内，一个健康的孩子出生了。
A sensitive and selective analytical technique is described for the determination of N-acetylaspartic acid in body fluids using stable isotope dilution in combination with positive chemical ionization mass spectrometry with selected ion monitoring.Control mean and ranges have been established: in urine 19.5 and 6.6-35.4-mu-mol/mmol creat.; in plasma 0.44 and 0.17-0.81-mu-mol/L; in cerebrospinal fluid 1.51 and 0.25-2.83-mu-mol/L; and in amniotic fluid 1.27 and 0.30-2.55-mu-mol/L.In a patient with Canavan disease, N-acetylaspartic acid concentration was elevated 80-fold in urine and 20-fold in plasma compared to the control means. A subsequent pregnancy of the mother was monitored and the N-acetylaspartic acid concentration in the amniotic fluid was within the control range and a healthy child was born.