Accinni Roberto, Campolo Jonica, Parolini Marina, De Maria Renata, Caruso Raffaele, Maiorana Andrea, Galluzzo Cino, Bartesaghi Silvia, Melotti Davide, Parodi Oberdan
Institute of Clinical Physiology, CNR Section of Milan, Niguarda Ca' Granda Hospital, P.zza Ospedale Maggiore 3, 20162 Milan, Italy.
J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Mar 5;785(2):219-26. doi: 10.1016/s1570-0232(02)00852-8.
Identification of homocystinuric newborns is hindered by the pitfalls of neonatal screening programs. We propose a fluorimetric HPLC method with a rapid pre-analytical step for homocysteine determination from neonatal dried blood spot cards. Homocysteine in blood spots sampled among 2000 healthy newborns on living day 4, averaged 2.92+/-2.07 microM (range 0.4-7.5). In eight homocystinuric control children, mean values were 61.71+/-52.84 microM (range 18.9-145.7). The method showed a good linearity (r=0.999), precision (RSD<7%) and recovery (95%). The correlation between blood spots and plasma samples was r=0.90. This method has all the essential features for a homocystinuria screening program: an easy and rapid pre-analytical step combined with method linearity and precision.
新生儿筛查项目的缺陷阻碍了同型胱氨酸尿症新生儿的识别。我们提出了一种荧光高效液相色谱法，该方法具有快速的分析前步骤，可用于从新生儿干血斑卡中测定同型半胱氨酸。在出生第4天对2000名健康新生儿采集的血斑中，同型半胱氨酸平均为2.92±2.07微摩尔/升（范围0.4 - 7.5）。在8名同型胱氨酸尿症对照儿童中，平均值为61.71±52.84微摩尔/升（范围18.9 - 145.7）。该方法具有良好的线性（r = 0.999）、精密度（相对标准偏差<7%）和回收率（95%）。血斑与血浆样本之间的相关性为r = 0.90。该方法具备同型胱氨酸尿症筛查项目的所有基本特征：简单快速的分析前步骤，以及方法的线性和精密度。
